{"id":70616,"date":"2024-01-10T16:42:34","date_gmt":"2024-01-10T07:42:34","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=70616"},"modified":"2026-05-01T14:46:44","modified_gmt":"2026-05-01T05:46:44","slug":"autosomal-recessive-inheritance","status":"publish","type":"page","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/","title":{"rendered":"\u7d0470\uff05\u306e\u4e21\u89aa\u304c\u30ad\u30e3\u30ea\u30a2\u3067\u3042\u308b\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8231\u7a2e\u985e"},"content":{"rendered":"\n<div class=\"caution\">\n<p><span>\u73fe\u5728\u306f\u56fd\u5185\u691c\u67fb\u3092\u884c\u306a\u3063\u3066\u304a\u308a\u307e\u305b\u3093\u3002<\/span><br>\n\u6d77\u5916\u306b\u767a\u9001\u3057\u3066\u304a\u308a\u307e\u3059\u306e\u3067\u3001\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n<\/div>\n<style>\n.caution{\n  position:relative;\n  aspect-ratio:2 \/ 1;\n  width:100%;\n  height:100%;\n  text-align:center;\n  color:#fe0000;\n}\n.caution p{\n  position:absolute;\n  top:50%;\n  left:50%;\n  transform:translate(-50%,-50%);\n  font-size:clamp(14px,3vw,36px);\n  width:100%;\n}\n.caution p span{\n  font-size:clamp(16px,5vw,56px);\n  font-weight:bold;\n}\n<\/style>\n\n\n\n<section class=\"sec1\">\n<h2>70\uff05\u306e\u4e21\u89aa\u304c\u30ad\u30e3\u30ea\u30a2\uff1f\u6f5c\u6027\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u6709\u7528\u6027\u306b\u3064\u3044\u3066<\/h2>\n<div class=\"pink-pointbox\">\n\n<div class=\"flex\">\n<div class=\"flex-item\">\n<p class=\"ex\"><span class=\"pink-pointmoji\">70\uff05<\/span>\u306e\u4eba\u304c\u4f55\u3089\u304b\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\uff08\u5909\u7570\uff09\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<br>\n\u3053\u306e\u3088\u3046\u306a\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u3092\u6301\u3064\u4eba\u306f\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3068\u547c\u3070\u308c\u307e\u3059\u3002<br>\n\u898b\u305f\u76ee\u3084\u4f53\u306b\u7570\u5e38\u304c\u306a\u304f\u3066\u3082\u3001\u305d\u306e\u907a\u4f1d\u5b50\u304c\u5b50\u3069\u3082\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<br>\n\u4e21\u89aa\u304c\u540c\u3058\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u305d\u306e\u5b50\u3069\u3082\u304c\u75c5\u6c17\u3092\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f<span class=\"pink-pointmoji\">25\uff05<\/span>\u3001\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308b\u78ba\u7387\u306f<span class=\"pink-pointmoji\">50\uff05<\/span>\u3001\u6b63\u5e38\u306a\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3050\u78ba\u7387\u306f<span class=\"pink-pointmoji\">25\uff05<\/span>\u3067\u3059\u3002<br>\n<\/p>\n<\/div>\n\n<div class=\"flex-item\">\n<img class=\"d-pc\" decoding=\"sync\" fetchpriority=\"high\" loading=\"eager\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/img-228-testwebp.webp\" alt=\"\u4e16\u754c\u4e2d\u3067\u63a8\u5968\u3055\u308c\u3066\u3044\u308b\u691c\u67fb\">\n<img class=\"d-sp\" decoding=\"sync\" fetchpriority=\"high\" loading=\"eager\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/img-228-test-e1752021528760.webp\" alt=\"\u4e16\u754c\u4e2d\u3067\u63a8\u5968\u3055\u308c\u3066\u3044\u308b\u691c\u67fb\">\n<\/div>\n\n\n<\/div>\n\n<\/div>\n<p>\u3067\u306f\u3001\u305d\u306e\u3088\u3046\u306a\u4eba\u306b\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u304c\u884c\u308f\u308c\u308b\u306e\u3067\u3057\u3087\u3046\u304b\u3002\u307e\u305f\u3001\u3069\u306e\u3088\u3046\u306a\u75be\u60a3\u304c\u898b\u3064\u304b\u308b\u306e\u3067\u3057\u3087\u3046\u304b\u3002<\/p>\n<\/section>\n\n<style>\n.d-pc { display: block; }\n.d-sp { display: none; }\n\n.pink-pointbox {\n background-color: #fff9fb;\n border-radius: 6px;\n border: 3px dashed #fdb0bc;\n padding: 20px;\n margin-bottom: 1rem;\n}\n.pink-pointbox .flex {\n flex-direction: column;\n align-items: center;\n gap: 20px;\n}\n.pink-pointbox .flex .flex-item {\n text-align: center;\n}\n.pink-pointbox .ex {\n margin-bottom: 0!important;\n font-size: 1.125rem;\n}\n.pink-pointmoji {\n color: red;\n}\n.flex-item {\n flex: 1 auto;\n}\n@media screen and (max-width: 700px) {\n .d-pc { display: none; }\n .d-sp { display: block; }\n\n .sec1 p {\n  margin: 0.5rem;\n }\n .flex {\n  flex-direction: column;\n }\n .flex-item {\n  flex: 1;\n }\n .flex-item:last-child {\n  width: 100%;\n }\n}\n@media screen and (min-width: 701px) {\n .sp-only {\n  display: none;\n }\n}\n<\/style>\n\n\n\n<!--<section style=\"margin-bottom:40px; border-top:1px solid #ffba4c; border-bottom:1px solid #ffba4c; padding:20px; background-color:#fff8f2;\">\n<p class=\"plan-guide\">\u6700\u5927231\u7a2e\u306e\u6f5c\u6027\u907a\u4f1d\u5b50\u75be\u60a3\u691c\u67fb\u304c\u3067\u304d\u308b<span style=\"display:inline-block;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u691c\u67fb\u30d7\u30e9\u30f3\u306f\u3053\u3061\u3089<\/span><\/p>\n<div class=\"plan228\">\n  <a href=\"\/nipt\/plan\/premium\/#f116\" style=\"background:#ffeaed; border-color:#fa709a; box-shadow: 0 3px 0 #d1456f;\">\n    <p>\u691c\u67fb\u53ef\u80fd\u306a\u9805\u76ee\u3092\u7db2\u7f85\u3057\u305f\u30d7\u30e9\u30f3<\/p>\n  <\/a>\n  <a href=\"\/nipt\/plan\/premium\/#g116\" style=\"background:#fff9e5;\">\n    <p>1\u756a\u4eba\u6c17\u30d7\u30e9\u30f3\u306b<br class=\"br\">\u592b\u5a66\u306e\u6f5c\u6027\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u8ffd\u52a0<\/p>\n  <\/a>\n<\/div>\n<\/section>\n\n<style>\n.plan-guide{\n text-align: center;\n}\n.plan228 a{\n display: block;\n color: #333;\n text-align: center;\n border: 2px solid #fed847;\n border-radius: 0;\n box-shadow: 0 3px 0 rgba(206, 161, 0);\n padding: 30px 15px;\n font-size: 20px;\n margin-bottom: 15px;\n}\n.plan228 a p{\n margin-bottom: 0;\n font-size: 16px !important;\n color: #d83c24;\n}\n.plan228 a span{\n font-size: 30px;\n}\n\n@media screen and (min-width:771px){\n .plan-guide{\n  font-size: 20px !important;\n }\n .plan228{\n  display: flex;\n  flex-wrap: nowrap;\n  justify-content: space-between;\n }\n .plan228 a{\n  width: 46%;\n }\n .plan228 a span{\n  font-size: 40px;\n }\n .plan228 a p{\n  font-size: 18px !important;\n }\n .plan228 a .br{\n  display: none;\n }\n}\n<\/style>-->\n\n\n<div class=\"newcta\">\r\n <a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\">\r\n  <p class=\"jisseki mincho\">NIPT\u691c\u67fb\u5b9f\u7e3e<span class=\"big\">68,000<span>\u4ef6\u4ee5\u4e0a<\/span><\/span><\/p>\r\n  <p class=\"res-btn\">\u7a7a\u304d\u72b6\u6cc1\u3092\u78ba\u8a8d\u3057\u3066\u4e88\u7d04\u3059\u308b<\/p>\r\n <\/a>\r\n<\/div>\r\n<style>\r\n.newcta{\r\n  margin:1rem auto 2rem;\r\n}\r\n.newcta a{\r\n  width:100%;\r\n  max-width:500px;\r\n  margin:0 auto;\r\n  display:block;\r\n  text-decoration:none;\r\n  text-align:center;\r\n}\r\n.newcta p{\r\n  margin:0 auto;\r\n}\r\n.newcta .jisseki{\r\n  margin:0 auto;\r\n  position:relative;\r\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\r\n  background: linear-gradient(to bottom, #b68d3c 0%, #e2b95f 35%, #b68d3c);\r\n  -webkit-background-clip: text;\r\n  color: rgba(0,0,0,0);\r\n  font-weight:bold;\r\n  display:inline-flex;\r\n  flex-wrap:wrap;\r\n  align-items:center;\r\n  justify-content:center;\r\n  gap:.5rem;\r\n  padding-bottom:1rem;\r\n}\r\n.newcta .jisseki span{\r\n  font-size:2rem;\r\n}\r\n.newcta .jisseki span span{\r\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\r\n}\r\n.newcta .res-btn{\r\n  display:inline-block;\r\n  background:#f0a3b8;\r\n  padding:1.5rem 2rem;\r\n  text-align:center;\r\n  border-radius:1rem;\r\n  box-shadow:0 .5rem .5rem #f0a3b866;\r\n  color:#fff;\r\n  font-size:1.2rem;\r\n  font-weight:bold;\r\n  letter-spacing:.2rem;\r\n  min-width:320px;\r\n}\r\n@media screen and (max-width:500px){\r\n  .newcta .jisseki .big{\r\n    width:100%;\r\n  }\r\n  .newcta .res-btn{\r\n    padding:1.5rem 0;\r\n  }\r\n}\r\n<\/style>\r\n<div class=\"old-cta\">\r\n<div class=\"container\" style=\"padding:10px\">\r\n<div class=\"nipt-bnr mincho\">\r\n<a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\">\r\n<p class=\"jisseki font-s gothic\">NIPT\u691c\u67fb\u5b9f\u7e3e<\/p>\r\n<p class=\"total font-m\"><span class=\"gold font-l\">68,000<\/span>\u4ef6<\/p>\r\n<p class=\"res font-s gothic\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089\u25b6\ufe0e\u25b6\ufe0e\u25b6\ufe0e<\/p>\r\n<\/a>\r\n<\/div>\r\n<\/div>\r\n<\/div>\r\n<div class=\"content-center\" style=\"max-width:1200px;margin:0 auto;width:90%\">\r\n <div class=\"image-text-block\">\r\n<a href=\"\/nipt\/20th-anniversary\/\" style=\"max-width:825px;margin:0.5rem auto\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/forplan_btn.webp\" style=\"width:100%\"><\/a>\r\n <\/div>\r\n<\/div>\r\n<style>\r\n.old-cta{\r\n  display:none;\r\n}\r\n.nipt-bnr{\r\n  display:flex;\r\n  justify-content:center;\r\n  align-items:center;\r\n  width:calc(100% - 3rem);\r\n  min-width:350px;\r\n  max-width:480px;\r\n  aspect-ratio:11 \/ 5;\r\n  position:relative;\r\n  margin:1rem auto;\r\n  background-image:linear-gradient(to bottom,#63513c,#63513c,#feef7b,#63513c,#63513c);\r\n  border-radius:8px;\r\n  box-shadow:6px 6px 6px #999;\r\n}\r\n.nipt-bnr .gold{\r\n  background:linear-gradient(to bottom,#d1ac60,#e8ca74 50%,#d29e30,#ac7726);\r\n  -webkit-background-clip: text;\r\n  -webkit-text-fill-color: transparent;\r\n  font-weight:bold;\r\n}\r\n.cta-btn-nipt-reservation-wimg{\r\n  text-decoration:none;\r\n  border-bottom:initial;\r\n}\r\n.label-link {\r\n  align-items: center;\r\n  text-decoration: none;\r\n  gap: 8px;\r\n}\r\n.image-text-block {\r\n  text-align: center;\r\n}\r\n.tittle_price{\r\n font-weight:900;\r\n font-size:2rem;\r\n color:#e54c84;\r\n text-align:center;\r\n border-bottom:none;\r\n margin-bottom:-10px;\r\n}\r\n.box_11 {\r\n  width: 12px;\r\n  height: 12px;\r\n  background-color: #e54c84;\r\n  border-radius: 2px;\r\n  flex-shrink: 0;\r\n}\r\n.center-container {\r\n  text-align: center;\r\n}\r\n.label-box{\r\ndisplay:block;\r\nfont-size:1.3rem !important;\r\nfont-weight:900;\r\ncolor:#e54c84;\r\ntext-align:right;\r\n}\r\n<\/style>\n\n\n\n\n\n<h3>\u2460\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306e\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8231\u3068\u306f\uff1f<\/h3>\n<p>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u306f\u3001\u51fa\u751f\u524d\u306b\u80ce\u5150\u306b\u95a2\u9023\u3059\u308b\u6700\u5927231\u7a2e\u985e\u306e\u91cd\u7be4\u306a\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u691c\u67fb\u3092\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u691c\u67fb\u306f\u3001\u7c73\u56fd\u7523\u79d1\u5a66\u4eba\u79d1\u5b66\u4f1a\uff08ACOG\uff09\u3084\u7c73\u56fd\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a\uff08ASHG\uff09\u3067\u3082\u5e83\u304f\u60c5\u5831\u63d0\u4f9b\u3059\u3079\u304d\u3068\u3055\u308c\u3066\u3044\u308b\u3001\u56fd\u969b\u7684\u306b\u3082\u91cd\u8981\u8996\u3055\u308c\u3066\u3044\u308b\u691c\u67fb\u3067\u3059\u3002<br>\n\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3068\u306f\u3001\u7236\u89aa\u3068\u6bcd\u89aa\u306e\u4e21\u65b9\u304c\u540c\u3058\u7a2e\u985e\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u308b\u3068\u304d\u306b\u3001\u5b50\u3069\u3082\u306b\u767a\u75c7\u3059\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u75c5\u6c17\u3067\u3059\u3002\u3053\u306e\u691c\u67fb\u3067\u306f\u3001\u7236\u89aa\u3068\u6bcd\u89aa\u306e\u53e3\u8154\u7c98\u819c\uff08\u982c\u306e\u5185\u5074\uff09\u304b\u3089\u907a\u4f1d\u5b50\u3092\u63a1\u53d6\u3057\u3066\u8abf\u3079\u3001\u4e21\u89aa\u304c\u540c\u3058\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n<figure style=\"margin-bottom:1rem;\">\n<img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/11\/swab-img.webp\" alt=\"\u691c\u67fb\u30ad\u30c3\u30c8\u306e\u5199\u771f\">\n<\/figure>\n\n<p>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306e\u8abf\u67fb\u3067\u306f\u3001\u7d0470\uff05\u306e\u4eba\u304c1\u3064\u4ee5\u4e0a\u306e\u6f5c\u6027\u907a\u4f1d\u5b50\u5909\u7570\u3092\u4fdd\u6709\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3068\u547c\u3070\u308c\u3001\u898b\u305f\u76ee\u3084\u4f53\u306e\u8abf\u5b50\u306b\u554f\u984c\u306f\u306a\u304f\u3066\u3082\u3001\u5b50\u3069\u3082\u306b\u907a\u4f1d\u5b50\u3092\u4f1d\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u72b6\u614b\u3067\u3059\u3002<\/p>\n<p>\u4e21\u89aa\u304c\u540c\u3058\u907a\u4f1d\u5b50\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u6b21\u306e\u3088\u3046\u306a\u78ba\u7387\u3067\u5b50\u3069\u3082\u304c\u75c5\u6c17\u3092\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n<ul>\n<li>25\uff05\uff084\u4eba\u306b1\u4eba\uff09\u306e\u78ba\u7387\u3067\u75c5\u6c17\u3092\u767a\u75c7<\/li>\n<li>50\uff05\uff082\u4eba\u306b1\u4eba\uff09\u306e\u78ba\u7387\u3067\u30ad\u30e3\u30ea\u30a2\uff08\u75c7\u72b6\u306a\u3057\uff09<\/li>\n<li>25\uff05\uff084\u4eba\u306b1\u4eba\uff09\u306e\u78ba\u7387\u3067\u6b63\u5e38<\/li>\n<\/ul>\n\n<figure><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/image6.png\" alt=\"\u4e21\u89aa\u304c\u540c\u3058\u907a\u4f1d\u5b50\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\"><\/figure>\n<p>\u3053\u306e\u691c\u67fb\u3067\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3068\u308f\u304b\u3063\u305f\u5834\u5408\u306f\u3001\u78ba\u5b9a\u691c\u67fb\u3068\u3057\u3066<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u304c\u63a8\u5968\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3>\u2461\u907a\u4f1d\u5b50\u306e\u201c\u5909\u7570\u201d\u304c\u75c5\u6c17\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308b<\/h3>\n<p>\u79c1\u305f\u3061\u306e\u4f53\u306f\u3001\u300c\u907a\u4f1d\u5b50\u300d\u3068\u3044\u3046\u8a2d\u8a08\u56f3\u306e\u3088\u3046\u306a\u60c5\u5831\u306b\u3057\u305f\u304c\u3063\u3066\u4f5c\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u907a\u4f1d\u5b50\u306f\u304a\u3088\u305d2\u4e07\u500b\u3042\u308a\u3001\u89aa\u304b\u3089\u5b50\u3078\u3068\u53d7\u3051\u7d99\u304c\u308c\u307e\u3059\u3002\u9aea\u306e\u8272\u3084\u80cc\u306e\u9ad8\u3055\u3001\u4f53\u8cea\u306a\u3069\u3001\u3055\u307e\u3056\u307e\u306a\u7279\u5fb4\u3092\u6c7a\u3081\u308b\u5927\u5207\u306a\u60c5\u5831\u3067\u3059\u3002<br>\n\u3068\u3053\u308d\u304c\u3001\u307e\u308c\u306b\u3053\u306e\u8a2d\u8a08\u56f3\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3001\u7279\u5b9a\u306e\u75c5\u6c17\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308b\u306e\u3067\u3059\u3002<br>\n\u305f\u3068\u3048\u3070\u300c\u6f5c\u6027\u907a\u4f1d\u300d\u3068\u3044\u3046\u4ed5\u7d44\u307f\u3067\u8d77\u304d\u308b\u75c5\u6c17\u306f\u3001\u7236\u89aa\u3068\u6bcd\u89aa\u306e\u4e21\u65b9\u304b\u3089\u540c\u3058\u30bf\u30a4\u30d7\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u3082\u3089\u3063\u305f\u3068\u304d\u306b\u3060\u3051\u767a\u75c7\u3057\u307e\u3059\u3002\u7247\u65b9\u306e\u89aa\u3060\u3051\u304c\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u672c\u4eba\u306f\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u306e\u75c5\u6c17\u306b\u306f\u306a\u308a\u307e\u305b\u3093\u3002<br>\n\u6f5c\u6027\u907a\u4f1d\u306e\u75c5\u6c17\u306e\u4e00\u4f8b\u3068\u3057\u3066\u300115\u756a\u67d3\u8272\u4f53\u306b\u3042\u308b\u300cOCA2\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u5909\u7570\u3092\u7236\u89aa\u3068\u6bcd\u89aa\u306e\u4e21\u65b9\u304b\u30891\u500b\u305a\u3064\u3001\u5408\u308f\u305b\u30662\u500b\u53d7\u3051\u7d99\u3050\u3068\u3001\u300cP\u30bf\u30f3\u30d1\u30af\u8cea\u300d\u3068\u3044\u3046\u3001\u808c\u3084\u9aea\u3001\u76ee\u306e\u8272\u3092\u6c7a\u3081\u308b\u300c\u30e1\u30e9\u30cb\u30f3\u300d\u3068\u3044\u3046\u8272\u7d20\u3092\u4f5c\u308b\u306e\u306b\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u4f5c\u3089\u308c\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u30e1\u30e9\u30cb\u30f3\u304c\u4f5c\u3089\u308c\u305a\u3001\u808c\u3084\u9aea\u306e\u8272\u304c\u767d\u304f\u306a\u308b\u300c\u773c\u76ae\u819a\u767d\u76ae\u75c7\uff08Oculocutaneous Albinism\uff09\u300d\u3068\u3044\u3046\u75c5\u6c17\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n<figure><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/image1.png\" alt=\"\"><\/figure>\n<p>\u307e\u305f\u3001\u300cX\u67d3\u8272\u4f53\u300d\u3068\u3044\u3046<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u306b\u95a2\u4fc2\u3059\u308b\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u308b\u75c5\u6c17\uff08X\u9023\u9396\u6f5c\u6027\u75be\u60a3\uff09\u306f\u3001\u7537\u306e\u5b50\u306b\u767a\u75c7\u3057\u3084\u3059\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u7537\u6027\u306fX\u67d3\u8272\u4f53\u30921\u672c\u3057\u304b\u6301\u3063\u3066\u3044\u306a\u3044\u305f\u3081\u3001\u305d\u3053\u306b\u5909\u7570\u304c\u3042\u308b\u3068\u4ee3\u308f\u308a\u304c\u306a\u304f\u3001\u75c5\u6c17\u304c\u51fa\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u4e00\u65b9\u3001\u5973\u6027\u306fX\u67d3\u8272\u4f53\u30922\u672c\u6301\u3063\u3066\u304a\u308a\u3001\u3069\u3061\u3089\u304b\u4e00\u65b9\u306b\u7570\u5e38\u304c\u3042\u3063\u3066\u3082\u3001\u3082\u3046\u4e00\u65b9\u304c\u6b63\u5e38\u3067\u3042\u308c\u3070\u305d\u306e\u50cd\u304d\u3092\u88dc\u3046\u3053\u3068\u304c\u3067\u304d\u308b\u305f\u3081\u3001\u767a\u75c7\u3057\u306b\u304f\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3>\u2462\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u907a\u4f1d\u6027\u75be\u60a3<\/h3>\n<p>\u6f5c\u6027\u907a\u4f1d\u306e\u75c5\u6c17\u306f\u73cd\u3057\u3044\u3068\u601d\u308f\u308c\u304c\u3061\u3067\u3059\u304c\u3001\u5b9f\u306f3000\u7a2e\u985e\u4ee5\u4e0a\u3082\u3042\u308a\u307e\u3059\u3002\u3059\u3079\u3066\u306e\u75c5\u6c17\u3092\u3042\u308f\u305b\u308b\u3068\u3001100\u7d44\u306e\u592b\u5a66\u306e\u3046\u30611\u301c2\u7d44\u306b\u3001\u907a\u4f1d\u6027\u75be\u60a3\u3092\u6301\u3064\u5b50\u3069\u3082\u304c\u751f\u307e\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u8ab0\u306b\u3067\u3082\u95a2\u4fc2\u306e\u3042\u308b\u8a71\u306a\u306e\u3067\u3059\u3002<br>\n\u305d\u306e\u305f\u3081\u3001\u598a\u5a20\u524d\u306b\u691c\u67fb\u3092\u53d7\u3051\u3066\u304a\u304f\u3053\u3068\u3067\u3001\u4e07\u304c\u4e00\u30ea\u30b9\u30af\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u306b\u3082\u51b7\u9759\u306b\u5bfe\u7b56\u3092\u8b1b\u3058\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001\u4f53\u5916\u53d7\u7cbe\u3067\u5065\u5eb7\u306a\u80da\u3092\u9078\u3076\u3001\u598a\u5a20\u5f8c\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3092\u3057\u3066\u8d64\u3061\u3083\u3093\u306e\u72b6\u614b\u3092\u78ba\u8a8d\u3059\u308b\u3001\u306a\u3069\u306e\u9078\u629e\u80a2\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3>\u2463\u6bcd\u89aa\u3068\u5b50\u3069\u3082\u306e\u5065\u5eb7\u7ba1\u7406\u306b\u3082\u5f79\u7acb\u3064<\/h3>\n<p>\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8231\u306f\u5b50\u3069\u3082\u306e\u75c5\u6c17\u306e\u30ea\u30b9\u30af\u3092\u77e5\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u6bcd\u89aa\u306e\u5065\u5eb7\u7ba1\u7406\u306b\u3082\u5f79\u7acb\u3061\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001\u598a\u5a20\u4e2d\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u306a\u51fa\u8840\u306e\u3057\u3084\u3059\u3055\u3084\u3001\u5fc3\u81d3\u306e\u75c5\u6c17\u306e\u30ea\u30b9\u30af\u306a\u3069\u3092\u524d\u3082\u3063\u3066\u77e5\u308b\u3053\u3068\u304c\u3067\u304d\u308c\u3070\u3001\u533b\u5e2b\u3082\u4e8b\u524d\u306b\u6e96\u5099\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n<figure><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/image3.png\"><\/figure>\n<figure><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/image5.png\"><\/figure>\n<p>\u3053\u306e\u3088\u3046\u306b\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8231\u306f\u3001\u5b89\u5fc3\u3057\u3066\u598a\u5a20\u30fb\u51fa\u7523\u3059\u308b\u305f\u3081\u306e\u30b5\u30dd\u30fc\u30c8\u306b\u3082\u306a\u308a\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u3068\u306e\u4f75\u7528\u3082\u53ef\u80fd\u3067\u3001NIPT\u3092\u53d7\u691c\u3055\u308c\u305f\u65b9\u306b\u306f\u3001\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8231\u3092\u30aa\u30d7\u30b7\u30e7\u30f3\u4fa1\u683c\u3067\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002\u3082\u3061\u308d\u3093\u3001NIPT\u3092\u53d7\u3051\u3066\u3044\u306a\u3044\u65b9\u3082\u5358\u72ec\u3067\u53d7\u691c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3>\u2464\u65e5\u672c\u4eba\u306b\u7279\u6709\u306a\u30ea\u30b9\u30af\u3082\u3042\u308b<\/h3>\n<p>\u65e5\u672c\u3067\u306f\u3001\u3044\u3068\u3053\u540c\u58eb\u306e\u7d50\u5a5a\u304c\u591a\u304b\u3063\u305f\u6642\u4ee3\u304c\u3042\u3063\u305f\u305f\u3081\u3001\u305d\u308c\u306b\u3088\u3063\u3066\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u96c6\u56e3\u306e\u4e2d\u306b\u6b8b\u308a\u3084\u3059\u304f\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u65e5\u672c\u4eba\u306b\u591a\u3044\u75c5\u6c17\u3082\u3042\u308a\u307e\u3059\u3002<br>\n\u305f\u3068\u3048\u3070\u3001\u300c\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\u300d\u3084\u300c\u767d\u70b9\u773c\u5e95\u75c7\u300d\u306a\u3069\u3001\u76ee\u306b\u95a2\u308f\u308b\u907a\u4f1d\u75c5\u306e\u4e2d\u306b\u306f\u3001\u65e5\u672c\u4eba\u306b\u7279\u306b\u591a\u3044\u3082\u306e\u304c\u3042\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002\u7279\u306b\u3001\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u3066\u306f\u300cEYS\u300d\u304c\u65e5\u672c\u4eba\u306b\u304a\u3044\u3066\u6700\u3082\u9ad8\u983b\u5ea6\u3067\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75c5\u6c17\u306f\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u610f\u5916\u3068\u8eab\u8fd1\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n<figure><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/image4.png\" alt=\"\"><\/figure>\n<p>\u3053\u306e\u3088\u3046\u306a\u65e5\u672c\u4eba\u306b\u7279\u6709\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u6d77\u5916\u306e\u30c7\u30fc\u30bf\u306b\u306f\u8f09\u3063\u3066\u3044\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u65e5\u672c\u4eba\u5411\u3051\u306b\u4f5c\u3089\u308c\u305f\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8231\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3>\u2465\u672a\u6765\u306e\u533b\u7642\u3078\u2500\u2500\u516c\u5e73\u306b\u3001\u8ab0\u3082\u304c\u9078\u3079\u308b\u793e\u4f1a\u306b<\/h3>\n<p>\u3053\u308c\u304b\u3089\u306e\u533b\u7642\u306f\u3001\u300c\u75c5\u6c17\u306b\u306a\u3063\u3066\u304b\u3089\u6cbb\u3059\u300d\u306e\u3067\u306f\u306a\u304f\u3001\u300c\u75c5\u6c17\u3092\u9632\u3050\u300d\u3053\u3068\u304c\u5927\u5207\u306b\u306a\u3063\u3066\u3044\u304d\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8231\u306f\u305d\u306e\u305f\u3081\u306e\u7b2c\u4e00\u6b69\u3067\u3059\u3002<br>\n\u30aa\u30fc\u30b9\u30c8\u30e9\u30ea\u30a2\u3084\u30aa\u30e9\u30f3\u30c0\u3067\u306f\u3001\u6f5c\u6027\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u56fd\u306e\u533b\u7642\u5236\u5ea6\u306b\u53d6\u308a\u5165\u308c\u308b\u53d6\u308a\u7d44\u307f\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002\u65e5\u672c\u3067\u3082\u3001\u3059\u3079\u3066\u306e\u30ab\u30c3\u30d7\u30eb\u304c\u516c\u5e73\u306b\u691c\u67fb\u3092\u53d7\u3051\u3089\u308c\u308b\u3088\u3046\u3001\u4fdd\u967a\u9069\u7528\u304c\u53ef\u80fd\u306a\u5236\u5ea6\u3065\u304f\u308a\u304c\u6c42\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<br>\n\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u306f\u3001\u598a\u5a20\u524d\u306e\u30d6\u30e9\u30a4\u30c0\u30eb\u30c1\u30a7\u30c3\u30af\u3068\u3057\u3066\u3082\u3001\u30ab\u30c3\u30d7\u30eb\u3067\u306e\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8231\u3092\u63a8\u5968\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u3053\u308c\u304b\u3089\u306e\u66ae\u3089\u3057\u306e\u9078\u629e\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5224\u65ad\u6750\u6599\u3092\u65e9\u3081\u306b\u5f97\u308b\u3053\u3068\u304c\u3067\u304d\u3001\u5b89\u5fc3\u3057\u3066\u51fa\u7523\u306b\u81e8\u3080\u6e96\u5099\u304c\u3067\u304d\u307e\u3059\u3002<br>\n\u3055\u3089\u306b\u3001\u51fa\u751f\u5f8c\u306e\u8d64\u3061\u3083\u3093\u306b\u3082\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8231\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u5c06\u6765\u306e\u5065\u5eb7\u30ea\u30b9\u30af\u3092\u65e9\u671f\u306b\u767a\u898b\u3057\u3001\u500b\u5225\u306b\u5bfe\u5fdc\u3057\u305f\u5065\u5eb7\u7ba1\u7406\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002\u982c\u306e\u5185\u5074\u3092\u3053\u3059\u3063\u3066\u691c\u4f53\u3092\u63a1\u53d6\u3059\u308b\u3060\u3051\u306e\u3001\u75db\u307f\u306e\u306a\u3044\u65b9\u6cd5\u3067\u5b9f\u65bd\u3067\u304d\u307e\u3059\u3002<br>\n\u3053\u306e\u691c\u67fb\u306f\u5c06\u6765\u751f\u307e\u308c\u3066\u304f\u308b\u547d\u3092\u5b88\u308b\u305f\u3081\u306e\u300c\u77e5\u308b\u300d\u3068\u3044\u3046\u9078\u629e\u80a2\u3067\u3059\u3002\u7c73\u56fd\u306e\u4e3b\u8981\u306a\u5b66\u4f1a\u3067\u3082\u63a8\u5968\u3055\u308c\u3066\u3044\u308b\u3053\u306e\u691c\u67fb\u3092\u3001\u65e5\u672c\u3067\u3082\u591a\u304f\u306e\u4eba\u306b\u6b63\u3057\u304f\u4f1d\u3048\u3001\u9078\u3079\u308b\u793e\u4f1a\u3092\u76ee\u6307\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u3001\u3053\u308c\u304b\u3089\u306e\u533b\u7642\u306b\u6c42\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"sanko\">\n<h3 style=\"border-bottom:1px solid #e54c84;\">\u53c2\u8003\u30fb\u5f15\u7528\u6587\u732e<\/h3>\n<ul>\n<li>Li, Huanyun, et al. \u2018P806: Application Value of Noninvasive Prenatal Diagnosis of Recessive Monogenic Genetic Diseases Based on Relative Haplotype Dosage Changes\u2019. Genetics in Medicine Open, vol. 3, 2025, p. 103175. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1016\/j.gimo.2025.103175\">https:\/\/doi.org\/10.1016\/j.gimo.2025.103175<\/a>.<\/li>\n<li>Temaj, G., et al. \u2018The Impact of Consanguinity on Human Health and Disease with an Emphasis on Rare Diseases\u2019. Journal of Rare Diseases, vol. 1, no. 1, Dec. 2022, p. 2. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1007\/s44162-022-00004-5\">https:\/\/doi.org\/10.1007\/s44162-022-00004-5<\/a>.<\/li>\n<li>Peterlin, Borut, and Ana Peterlin. \u2018Carrier Screening and Pregnancy\u2019. Best Practice &#038; Research Clinical Obstetrics &#038; Gynaecology, vol. 100, June 2025, p. 102601. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1016\/j.bpobgyn.2025.102601\">https:\/\/doi.org\/10.1016\/j.bpobgyn.2025.102601<\/a>.<\/li>\n<li>Hotta, Yoshihiro, et al. \u2018Ocular Genetics in the Japanese Population\u2019. Japanese Journal of Ophthalmology, vol. 68, no. 5, Sept. 2024, pp. 401\u201318. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1007\/s10384-024-01109-8\">https:\/\/doi.org\/10.1007\/s10384-024-01109-8<\/a>.<\/li>\n<li>Wang, Tianjiao, et al. \u2018An Overview of Reproductive Carrier Screening Panels for Autosomal Recessive and\/or X\u2010linked Conditions: How Much Do We Know?\u2019 Prenatal Diagnosis, vol. 43, no. 11, Oct. 2023, pp. 1416\u201324. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1002\/pd.6434\">https:\/\/doi.org\/10.1002\/pd.6434<\/a>.<\/li>\n<li>Dive, Lisa, et al. \u2018Ethical Considerations in Gene Selection for Reproductive Carrier Screening\u2019. Human Genetics, vol. 141, no. 5, May 2022, pp. 1003\u201312. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1007\/s00439-021-02341-9\">https:\/\/doi.org\/10.1007\/s00439-021-02341-9<\/a>.<\/li>\n<li>Edwards, Samantha, and Nigel Laing. \u2018Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review\u2019. Journal of Personalized Medicine, vol. 12, no. 10, Oct. 2022, p. 1699. DOI.org (Crossref), <a  href=\"https:\/\/doi.org\/10.3390\/jpm12101699\">https:\/\/doi.org\/10.3390\/jpm12101699<\/a>.<\/li>\n<li>Prabhu, Akshatha. \u2018Fetal Medicine and Current Practice of Prenatal Screening\u2019. Apollo Medicine, vol. 20, no. 2, June 2023, pp. 135\u201338. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.4103\/am.am_60_23\">https:\/\/doi.org\/10.4103\/am.am_60_23<\/a>.<\/li>\n<li>Veneruso, Iolanda, et al. \u2018Current Updates on Expanded Carrier Screening: New Insights in the Omics Era\u2019. Medicina, vol. 58, no. 3, Mar. 2022, p. 455. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.3390\/medicina58030455\">https:\/\/doi.org\/10.3390\/medicina58030455<\/a>.<\/li>\n<li>Srinivasan, Balaji S., et al. \u2018A Universal Carrier Test for the Long Tail of Mendelian Disease\u2019. Reproductive BioMedicine Online, vol. 21, no. 4, Oct. 2010, pp. 537\u201351. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1016\/j.rbmo.2010.05.012\">https:\/\/doi.org\/10.1016\/j.rbmo.2010.05.012<\/a>.<\/li>\n<li>Nguengang Wakap, St\u00e9phanie, et al. \u2018Estimating Cumulative Point Prevalence of Rare Diseases: Analysis of the Orphanet Database\u2019. European Journal of Human Genetics, vol. 28, no. 2, Feb. 2020, pp. 165\u201373. www.nature.com, <a href=\"https:\/\/doi.org\/10.1038\/s41431-019-0508-0\">https:\/\/doi.org\/10.1038\/s41431-019-0508-0<\/a>.<\/li>\n<li>Chung, Brian Hon Yin, et al. \u2018Rare versus Common Diseases: A False Dichotomy in Precision Medicine\u2019. Npj Genomic Medicine, vol. 6, no. 1, Feb. 2021, p. 19. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1038\/s41525-021-00176-x\">https:\/\/doi.org\/10.1038\/s41525-021-00176-x<\/a>.<\/li>\n<li>Faye, Fatoumata, et al. \u2018Time to Diagnosis and Determinants of Diagnostic Delays of People Living with a Rare Disease: Results of a Rare Barometer Retrospective Patient Survey\u2019. European Journal of Human Genetics, vol. 32, no. 9, Sept. 2024, pp. 1116\u201326. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1038\/s41431-024-01604-z\">https:\/\/doi.org\/10.1038\/s41431-024-01604-z<\/a>.<\/li>\n<li>Laing, Nigel G., et al. \u2018Genetic Neuromuscular Disorders: What Is the Best That We Can Do?\u2019 Neuromuscular Disorders, vol. 31, no. 10, Oct. 2021, pp. 1081\u201389. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1016\/j.nmd.2021.07.007\">https:\/\/doi.org\/10.1016\/j.nmd.2021.07.007<\/a>.<\/li>\n<li><a href=\"https:\/\/www.info.pmda.go.jp\/downfiles\/md\/PDF\/200880\/200880_28B3X10006000050_A_01_01.pdf\">https:\/\/www.info.pmda.go.jp\/downfiles\/md\/PDF\/200880\/200880_28B3X10006000050_A_01_01.pdf<\/a><\/li>\n<\/ul>\n<\/div>\n<style>\nfigure{\n  max-width:800px;\n  margin:0 auto;\n  text-align:center;\n}\n.sanko ul{\n  font-size:0.8rem;\n}\n.sanko ul li{\n  line-height:1.2;\n}\n<\/style>\n\n\n\n<section>\n    <h2>\u691c\u67fb\u306e\u6d41\u308c<\/h2>\n    <div class=\"stepbar\">\n\n        <div class=\"stepbarwrap\">\n            <div class=\"steptitle\">\n                <span class=\"stepcircle\"><\/span>\n                <span class=\"stepnum\">\u30b9\u30c6\u30c3\u30d71<\/span>\n            <\/div>\n            <div class=\"steptxt\">\n                <p class=\"title\">\u30af\u30ea\u30cb\u30c3\u30af\u3067\u691c\u67fb\u306e\u7533\u3057\u8fbc\u307f<\/p>\n                <span class=\"txt\">\u7533\u8fbc\u306e\u969b\u306b\u598a\u5a66\u3055\u307e\u3068\u30d1\u30fc\u30c8\u30ca\u30fc\u3055\u307e\u306e\u540c\u610f\u66f8\u3092\u8a18\u8f09\u3057\u307e\u3059<br>\u691c\u67fb\u30ad\u30c3\u30c8\u306f\u3001\u6765\u9662\u6642\u306b\u304a\u6e21\u3057\u3057\u307e\u3059<br>\u203b\u598a\u5a66\u3055\u307e\u3068\u30d1\u30fc\u30c8\u30ca\u30fc\u3055\u307e\u306f\u5fc5\u305a\u3054\u4e00\u7dd2\u306b\u6765\u9662\u304f\u3060\u3055\u3044<\/span>\n            <\/div>\n            <span class=\"stepline\"><\/span>\n        <\/div>\n\n        <div class=\"stepbarwrap\">\n            <div class=\"steptitle\">\n                <span class=\"stepcircle\"><\/span>\n                <span class=\"stepnum\">\u30b9\u30c6\u30c3\u30d72<\/span>\n            <\/div>\n            <div class=\"steptxt\">\n               <!-- <p class=\"title\">\u691c\u67fb\u30ad\u30c3\u30c8\u304c\u3054\u81ea\u5b85\u306b\u5c4a\u304d\u307e\u3059<\/p>\u3000-->\n                <span class=\"txt\">\u691c\u67fb\u30ad\u30c3\u30c8\u306e\u30b7\u30e3\u30d5\u30c8\u90e8\u5206\u3092\u982c\u7c98\u819c(\u53e3\u8154\u5185\u306e\u982c)\u306b\u3053\u3059\u308a\u3001\u7d30\u80de\u3092\u63a1\u53d6\u3057\u3066\u304f\u3060\u3055\u3044<br>\u203b\u63a1\u53d6\u524d30\u5206\u4ee5\u5185\u306e\u55ab\u7159\u3001\u98f2\u98df\u3001\u6b6f\u78e8\u304d\u3001\u30ac\u30e0\u3092\u565b\u3080\u3053\u3068\u3092\u63a7\u3048\u3066\u304f\u3060\u3055\u3044<br>\u63a1\u53d6\u3057\u305f\u691c\u4f53\u306f\u30af\u30ea\u30cb\u30c3\u30af\u306b\u63d0\u51fa\u3057\u3066\u5e30\u5b85\u3057\u3066\u304f\u3060\u3055\u3044<\/span>\n            <\/div>\n            <span class=\"stepline\"><\/span>\n        <\/div>\n\n        <div class=\"stepbarwrap\">\n            <div class=\"steptitle\">\n                <span class=\"stepcircle\"><\/span>\n                <span class=\"stepnum\">\u30b9\u30c6\u30c3\u30d73<\/span>\n            <\/div>\n            <div class=\"steptxt\">\n                <p class=\"title\">\u691c\u67fb\u306e\u3054\u5831\u544a<\/p>\n                <span class=\"txt\">\u7d043\u9031\u9593\u5f8c\u3001\u30e1\u30fc\u30eb\u3067\u3054\u5831\u544a\u3044\u305f\u3057\u307e\u3059<br>\u203b\u598a\u5a66\u3055\u3093\u306e\u63a1\u8840\u306b\u3088\u308a\u884c\u3063\u305f\u691c\u67fb\u3068\u306f\u5225\u306e\u3054\u5831\u544a\u306b\u306a\u308a\u307e\u3059<br>\u203b\u691c\u67fb\u306e\u3054\u5831\u544a\u306f\u3001\u8fd4\u9001\u3055\u308c\u305f\u691c\u67fb\u30ad\u30c3\u30c8\u304c\u691c\u67fb\u6240\u306b\u5230\u7740\u3057\u3066\u304b\u3089\u7d043\u9031\u9593\u5f8c\u306b\u306a\u308a\u307e\u3059<\/span>\n            <\/div>\n            <span class=\"stepline\"><\/span>\n        <\/div>\n\n   <!--     <div class=\"stepbarwrap\">\n            <div class=\"steptitle\">\n                <span class=\"stepcircle\"><\/span>\n                <span class=\"stepnum\">\u30b9\u30c6\u30c3\u30d74<\/span>\n            <\/div>\n            <div class=\"steptxt\">\n                <p class=\"title\">\u691c\u67fb\u30ad\u30c3\u30c8\u306e\u8fd4\u9001<\/p>\n                <span class=\"txt\">\u63a1\u53d6\u3057\u305f\u691c\u4f53\u3092\u30ec\u30bf\u30fc\u30d1\u30c3\u30af\u306b\u5165\u308c\u3066\u3001\u304a\u8fd1\u304f\u306e\u30dd\u30b9\u30c8\u306b\u6295\u51fd\u304f\u3060\u3055\u3044<\/span>\n            <\/div>\n            <span class=\"stepline\"><\/span>\n        <\/div>\n\n        <div class=\"stepbarwrap\">\n            <div class=\"steptitle\">\n                <span class=\"stepcircle\"><\/span>\n                <span class=\"stepnum\">\u30b9\u30c6\u30c3\u30d75<\/span>\n            <\/div>\n            <div class=\"steptxt\">\n                <p class=\"title\">\u691c\u67fb\u306e\u3054\u5831\u544a<\/p>\n                <span class=\"txt\">\u7d041\u304b\u6708\u5f8c\u3001\u30e1\u30fc\u30eb\u3067\u3054\u5831\u544a\u3044\u305f\u3057\u307e\u3059<br>\u203b\u598a\u5a66\u3055\u3093\u306e\u63a1\u8840\u306b\u3088\u308a\u884c\u3063\u305f\u56fd\u5185\u691c\u67fb\u3068\u306f\u5225\u306e\u5831\u544a\u306b\u306a\u308a\u307e\u3059<br>\u203b\u691c\u67fb\u306e\u3054\u5831\u544a\u306f\u3001\u8fd4\u9001\u3055\u308c\u305f\u691c\u67fb\u30ad\u30c3\u30c8\u304c\u691c\u67fb\u6240\u306b\u5230\u7740\u3057\u3066\u304b\u3089\u7d04\uff11\u30f6\u6708\u5f8c\u306b\u306a\u308a\u307e\u3059<\/span>\n            <\/div> -->\n            <span class=\"stepline\"><\/span>\n        <\/div>\n    <\/div>\n<\/section>\n\n<style>\n.stepbar {\n  margin: 0 auto;\n  width: 80%;\n}\n\n.stepbar .stepbarwrap {\n  margin: 2em 0;\n  position: relative;\n}\n\n.stepbar .stepbarwrap .steptitle {\n  display: inline-flex;\n  align-items: center;\n}\n\n.stepbar .stepbarwrap .steptitle .stepcircle {\n  display: inline-block;\n  width: 1em;\n  height: 1em;\n  content: \"\";\n  border-radius: 50%;\n  background-color: #fff;\n  border: 1px solid #000;\n}\n\n.stepbar .stepbarwrap .steptitle .stepnum {\n  color:#ED9027;\n  font-weight: bold;\n  font-size: 1.2rem;\n}\n\n.stepbar .stepbarwrap .steptxt {\n  padding-left: 2em;\n}\n\n.stepbar .stepbarwrap .steptxt .title {\n  margin: 0.5em 0;\n  font-weight: bold;\n  font-size: 1.2em;\n}\n\n.stepbar .stepbarwrap .steptxt .txt {\n  font-size: 0.9em;\n}\n\n.stepbar .stepbarwrap .stepline {\n  width: 1px;\n  height: calc(100% + 1em);\n  background-color: #000;\n  position: absolute;\n  top: 1em;\n  left: 0.5em;\n  z-index: -1;\n}\n\n.stepbarwrap:last-of-type .stepline:last-of-type {\n  display: none;\n}\n@media screen and (max-width: 960px) {\n  .stepbar {\n    width: 90%;\n  }\n}\n<\/style>\n\n\n\n<div class=\"section-separator\">\n   <h2>\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8231\u306e<br class=\"sp-only\">\u30aa\u30d7\u30b7\u30e7\u30f3\u6599\u91d1<\/h2>\n   <div class=\"button_moji\"><a href=\"\/nipt\/plan\/option\/#Options\">\u30aa\u30d7\u30b7\u30e7\u30f3\u6599\u91d1\u306f\u30b3\u30c1\u30e9<\/a><\/div>\n <\/div>\n    \n    \n <div class=\"box_content\" style=\"text-align:center;\">\n    <div class=\"image-container\">\n        <div class=\"pc-only\">\n            <img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/04\/228-plan-pc-1.webp\" alt=\"\u6700\u5927231\u7a2e\u985e\u306e\u6f5c\u6027\u907a\u4f1d\u5b50\u691c\u67fb PC\u8868\u793a\">\n            \n            <\/div>\n            <div class=\"sp-only\">\n            <img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/228-plan-sp.webp\" alt=\"228\u7a2e\u985e\u306e\u6f5c\u6027\u907a\u4f1d\u5b50\u691c\u67fb SP\u8868\u793a\">\n            <\/div>\n    <\/div>\n   <\/div>\n   \n   <style>\n    .button_moji {\n        font-weight: 700;\n        font-size: 1.6rem;\n        text-align: center;\n    }\n    .button_moji {\n        color: #e54c84;\n        background-color: #fff;\n        border-bottom: 5px solid #e54c84;\n        width: 60%;\n        margin:0 auto;\n    }\n    .button_moji {\n    border: 6px ridge #de0c59;\n  }\n    .box_content img {\n        width: 100%;\n    }\n   .plan_list{\n     text-align: center;\n     font-weight: 700;\n     color: #e54c84;\n     padding-top: 50px;\n   }\n   .image-container {\n     display: inline-block;\n     cursor: pointer;\n     text-align: center;\n   }\n   \n   .small-image {\n     width: 100%;\n   }\n   @media screen and (max-width: 700px) {\n      .pc-only {\n        display: none;\n      }\n    }\n    @media screen and (min-width: 701px) {\n      .sp-only {\n        display: none;\n      }\n    }\n   <\/style>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"section-separator\">\n<h2 class=\"wp-block-heading\">\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3092\u767a\u75c7\u3059\u308b\u4ed5\u7d44\u307f\u306b\u3064\u3044\u3066<\/h2>\n<p>\u30d2\u30c8\u306b\u306f\u3001\u6bcd\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3050\u67d3\u8272\u4f53\u3068\u7236\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3050\u67d3\u8272\u4f53\u306e2\u672c\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n<p>\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3068\u306f\u3001\u3053\u308c\u30892\u672c\u306e\u67d3\u8272\u4f53\u306e\u540c\u3058\u4f4d\u7f6e\u306b\u3042\u308b\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u304c\u3042\u308b\u5834\u5408\u306b\u767a\u75c7\u3059\u308b\u75be\u60a3\u306e\u3053\u3068\u3092\u8a00\u3044\u307e\u3059\u3002\u6bcd\u89aa\u307e\u305f\u306f\u7236\u89aa\u7531\u6765\u306e\u67d3\u8272\u4f53\u306e\u4e00\u65b9\u304c\u7570\u5e38\u306e\u5834\u5408\u3067\u3082\u3001\u3082\u3046\u7247\u65b9\u306e\u67d3\u8272\u4f53\u306b\u7570\u5e38\u304c\u306a\u3044\u5834\u5408\u306b\u306f\u767a\u75c7\u3057\u307e\u305b\u3093\u3002\u3082\u3046\u4e00\u65b9\u304c\u6b63\u5e38\u3067\u3042\u308c\u3070\u75c5\u6c17\u306b\u306f\u306a\u3089\u305a\u3001\u305d\u306e\u4eba\u306f\u300c\u30ad\u30e3\u30ea\u30a2\u300d\u3068\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\n<p>\u89aa\u621a\u540c\u58eb\u3067\u5b50\u3069\u3082\u3092\u4f5c\u308b\u3068\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u306e\u306f\u3001\u3053\u306e\u30ad\u30e3\u30ea\u30a2\u306e\u53ef\u80fd\u6027\u304c\u8840\u7e01\u9593\u3067\u306f\u9ad8\u304f\u306a\u308b\u305f\u3081\u3067\u3059\u3002\u305f\u3068\u3048\u3070\u30014\u4e07\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u767a\u75c7\u3059\u308b\u7a00\u306a\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u3001\u30ad\u30e3\u30ea\u30a2\u306f\u7d04100\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u300c100\u5206\u306e1 \u00d7 100\u5206\u306e1 \u00d7 4\u5206\u306e1 = 40,000\u5206\u306e1\u300d\u306e\u8a08\u7b97\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\u3057\u305f\u304c\u3063\u3066\u3001100\u306e\u7570\u306a\u308b\u75be\u60a3\u3092\u8abf\u3079\u308c\u3070\u3001<strong>\u307b\u3068\u3093\u3069\u306e\u4eba\u304c\u4f55\u3089\u304b\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u3067\u3042\u308b\u53ef\u80fd\u6027<\/strong>\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n<p>\u3067\u306f\u3001\u3082\u3057\u3082\u5f53\u9662\u306e\u691c\u67fb\u3067\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306e\u540c\u3058\u5834\u6240\u306b\u7570\u5e38\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u306b\u306f\u3069\u3046\u306a\u308b\u306e\u3067\u3057\u3087\u3046\u304b\uff1f<\/p>\n<p>\u4e21\u89aa\u304c\u5076\u7136\u306b\u3082\u540c\u3058\u5834\u6240\u306e\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u3092\u6301\u3063\u3066\u3044\u305f\u5834\u5408\u3001\u305d\u306e\u5b50\u3069\u3082\u306f\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3092\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002\u306a\u305c\u306a\u3089\u3001\u305d\u306e\u907a\u4f1d\u5b50\u306e\u4f4d\u7f6e\u306b\u6b63\u5e38\u306a\u30b3\u30d4\u30fc\u304c\u306a\u3044\u305f\u3081\u3001\u75c5\u6c17\u3092\u767a\u75c7\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u304b\u3089\u3067\u3059\u3002<\/p>\n<div style=\"border: 1px dotted #e54c84; padding: 1rem 2rem; max-width: 400px; margin-bottom: 1rem;\">\n    <ul>\n      <li>4\u4eba\u306b1\u4eba\u306e\u80ce\u5150\u304c\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n      <li>2\u4eba\u306b1\u4eba\u304c\u30ad\u30e3\u30ea\u30a2\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n      <li>4\u4eba\u306b1\u4eba\u304c\u6b63\u5e38\u500b\u4f53\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n    <\/ul>\n  <\/div>\n<p>\u305d\u308c\u3092\u8abf\u3079\u308b\u306b\u306f\u3069\u3046\u3057\u305f\u3089\u3044\u3044\u306e\u3067\u3057\u3087\u3046\u304b\uff1f<\/p>\n<p><strong>\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u3092\u8abf\u3079\u308b\u6700\u3082\u6b63\u78ba\u306a\u65b9\u6cd5\u306e\u4e00\u3064\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3067\u3059\u3002<\/strong>\u3053\u306e\u691c\u67fb\u3067\u306f\u3001\u7f8a\u6c34\u304b\u3089\u5f97\u3089\u308c\u305f\u80ce\u5150\u306e\u7d30\u80de\u3092\u7528\u3044\u3066\u907a\u4f1d\u5b50\u89e3\u6790\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u30b5\u30dd\u30fc\u30c8\u306b\u3054\u52a0\u5165\u3044\u305f\u3060\u304f\u3068\u3001\u30d7\u30e9\u30f3\u306b\u5fdc\u3058\u3066\u6700\u592730\u4e07\u5186(\u7a0e\u8fbc)\u307e\u3067\u88dc\u52a9\u304c\u53d7\u3051\u3089\u308c\u308b\u305f\u3081\u3001\u591a\u304f\u306e\u5834\u5408\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306e\u8cbb\u7528\u3092\u5168\u984d\u8cc4\u3046\u3053\u3068\u304c\u3067\u304d\u3001\u81ea\u5df1\u8ca0\u62c5\u306a\u3057\u3067\u691c\u67fb\u3092\u53d7\u3051\u3066\u3044\u305f\u3060\u3051\u307e\u3059\u3002<br>\u691c\u67fb\u3092\u5e0c\u671b\u3055\u308c\u308b\u5834\u5408\u306f\u3001\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306b\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<\/p>\n<\/div>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\"><div class=\"newcta\">\r\n <a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\">\r\n  <p class=\"jisseki mincho\">NIPT\u691c\u67fb\u5b9f\u7e3e<span class=\"big\">68,000<span>\u4ef6\u4ee5\u4e0a<\/span><\/span><\/p>\r\n  <p class=\"res-btn\">\u7a7a\u304d\u72b6\u6cc1\u3092\u78ba\u8a8d\u3057\u3066\u4e88\u7d04\u3059\u308b<\/p>\r\n <\/a>\r\n<\/div>\r\n<style>\r\n.newcta{\r\n  margin:1rem auto 2rem;\r\n}\r\n.newcta a{\r\n  width:100%;\r\n  max-width:500px;\r\n  margin:0 auto;\r\n  display:block;\r\n  text-decoration:none;\r\n  text-align:center;\r\n}\r\n.newcta p{\r\n  margin:0 auto;\r\n}\r\n.newcta .jisseki{\r\n  margin:0 auto;\r\n  position:relative;\r\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\r\n  background: linear-gradient(to bottom, #b68d3c 0%, #e2b95f 35%, #b68d3c);\r\n  -webkit-background-clip: text;\r\n  color: rgba(0,0,0,0);\r\n  font-weight:bold;\r\n  display:inline-flex;\r\n  flex-wrap:wrap;\r\n  align-items:center;\r\n  justify-content:center;\r\n  gap:.5rem;\r\n  padding-bottom:1rem;\r\n}\r\n.newcta .jisseki span{\r\n  font-size:2rem;\r\n}\r\n.newcta .jisseki span span{\r\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\r\n}\r\n.newcta .res-btn{\r\n  display:inline-block;\r\n  background:#f0a3b8;\r\n  padding:1.5rem 2rem;\r\n  text-align:center;\r\n  border-radius:1rem;\r\n  box-shadow:0 .5rem .5rem #f0a3b866;\r\n  color:#fff;\r\n  font-size:1.2rem;\r\n  font-weight:bold;\r\n  letter-spacing:.2rem;\r\n  min-width:320px;\r\n}\r\n@media screen and (max-width:500px){\r\n  .newcta .jisseki .big{\r\n    width:100%;\r\n  }\r\n  .newcta .res-btn{\r\n    padding:1.5rem 0;\r\n  }\r\n}\r\n<\/style>\r\n<div class=\"old-cta\">\r\n<div class=\"container\" style=\"padding:10px\">\r\n<div class=\"nipt-bnr mincho\">\r\n<a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\">\r\n<p class=\"jisseki font-s gothic\">NIPT\u691c\u67fb\u5b9f\u7e3e<\/p>\r\n<p class=\"total font-m\"><span class=\"gold font-l\">68,000<\/span>\u4ef6<\/p>\r\n<p class=\"res font-s gothic\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089\u25b6\ufe0e\u25b6\ufe0e\u25b6\ufe0e<\/p>\r\n<\/a>\r\n<\/div>\r\n<\/div>\r\n<\/div>\r\n<div class=\"content-center\" style=\"max-width:1200px;margin:0 auto;width:90%\">\r\n <div class=\"image-text-block\">\r\n<a href=\"\/nipt\/20th-anniversary\/\" style=\"max-width:825px;margin:0.5rem auto\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/forplan_btn.webp\" style=\"width:100%\"><\/a>\r\n <\/div>\r\n<\/div>\r\n<style>\r\n.old-cta{\r\n  display:none;\r\n}\r\n.nipt-bnr{\r\n  display:flex;\r\n  justify-content:center;\r\n  align-items:center;\r\n  width:calc(100% - 3rem);\r\n  min-width:350px;\r\n  max-width:480px;\r\n  aspect-ratio:11 \/ 5;\r\n  position:relative;\r\n  margin:1rem auto;\r\n  background-image:linear-gradient(to bottom,#63513c,#63513c,#feef7b,#63513c,#63513c);\r\n  border-radius:8px;\r\n  box-shadow:6px 6px 6px #999;\r\n}\r\n.nipt-bnr .gold{\r\n  background:linear-gradient(to bottom,#d1ac60,#e8ca74 50%,#d29e30,#ac7726);\r\n  -webkit-background-clip: text;\r\n  -webkit-text-fill-color: transparent;\r\n  font-weight:bold;\r\n}\r\n.cta-btn-nipt-reservation-wimg{\r\n  text-decoration:none;\r\n  border-bottom:initial;\r\n}\r\n.label-link {\r\n  align-items: center;\r\n  text-decoration: none;\r\n  gap: 8px;\r\n}\r\n.image-text-block {\r\n  text-align: center;\r\n}\r\n.tittle_price{\r\n font-weight:900;\r\n font-size:2rem;\r\n color:#e54c84;\r\n text-align:center;\r\n border-bottom:none;\r\n margin-bottom:-10px;\r\n}\r\n.box_11 {\r\n  width: 12px;\r\n  height: 12px;\r\n  background-color: #e54c84;\r\n  border-radius: 2px;\r\n  flex-shrink: 0;\r\n}\r\n.center-container {\r\n  text-align: center;\r\n}\r\n.label-box{\r\ndisplay:block;\r\nfont-size:1.3rem !important;\r\nfont-weight:900;\r\ncolor:#e54c84;\r\ntext-align:right;\r\n}\r\n<\/style>\n\n\n\n<h2 class=\"wp-block-heading\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u308f\u304b\u308b<br>\u6f5c\u6027\u907a\u4f1d\u75be\u60a3<\/h2>\n<\/div><\/div>\n\n\n\n<div class=\"disease_list_holder\">\n    <table class=\"disease_list\">\n        <tr>\n            <th>\u75be\u60a3\u540d<\/th>\n            <th>\u75be\u60a3\u540d EN<\/th>\n            <th>\u5f53\u9662\u3067\u8abf\u3079\u3089\u308c\u308b\u907a\u4f1d\u5b50<\/th>\n            <th>\u767a\u751f\u3059\u308b\u67d3\u8272\u4f53<\/th>\n            <th>\u8a73\u7d30\u60c5\u5831<\/th>\n        <\/tr>\n        <tr>\n            <td>3-\u30d2\u30c9\u30ed\u30ad\u30b7-3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30eb\u9178\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/901\">3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HMGCL&#038;keywords=HMGCL\">HMGCL<\/a><\/td>\n            <td><a href=\"\"><\/a><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a>.1<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/3-hydroxy-3-methylglutaryl-coenzyme-a-lyase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e9\u30a4\u30c7\u30a3\u30c3\u30d2\u7d30\u80de\u5f62\u6210\u4e0d\u5168(\u9ec4\u4f53\u5f62\u6210\u30db\u30eb\u30e2\u30f3\u62b5\u6297\u6027)<\/td>\n            <td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/leydig-cell-hypoplasia\/\">Leydig Cell Hypoplasia [Luteinizing Hormone Resistance]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LHCGR&#038;keywords=LHCGR\">LHCGR<\/a><\/td>\n            <td><a href=\"\">2p16.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leydig-cell-hypoplasia-luteinizing-hormone-resistance\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>3-\u30e1\u30c1\u30eb\u30af\u30ed\u30c8\u30cb\u30ebCoA\u30ab\u30eb\u30dc\u30ad\u30b7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_02_027\/\">3-Methylcrotonyl-CoA Carboxylase Deficiency 1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MCCC1&#038;keywords=MCCC1\">MCCC1<\/a><\/td>\n            <td><a href=\"\">3q27.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/3-methylcrotonyl-coa-carboxylase-deficiency-1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u2161E\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4523\">Limb Girdle Muscular Dystrophy, Type 2E<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SGCB&#038;keywords=SGCB\">SGCB<\/a><\/td>\n            <td><a href=\"\">4q12<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2e\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8907\u5408\u30ab\u30eb\u30dc\u30ad\u30b7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_02_032\/\">3-Methylcrotonyl-CoA Carboxylase Deficiency 2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MCCC2&#038;keywords=MCCC2\">MCCC2<\/a><\/td>\n            <td><a href=\"\">5q13.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/3-methylcrotonyl-coa-carboxylase-deficiency-2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b8\u30d2\u30c9\u30ed\u30ea\u30dd\u30a2\u30df\u30c9\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7(\u30e1\u30fc\u30d7\u30eb\u30b7\u30ed\u30c3\u30d7\u5c3f\u75c7III\u578b)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4813\">Lipoamide Dehydrogenase Deficiency [Maple Syrup Urine Disease, Type 3]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DLD&#038;keywords=DLD\">DLD<\/a><\/td>\n            <td><a href=\"\">7q31.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lipoamide-dehydrogenase-deficiency-maple-syrup-urine-disease-type-3\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7121\u03b2\u30ea\u30dd\u86cb\u767d\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4573\">Abetalipoproteinemia<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MTTP&#038;keywords=MTTP\">MTTP<\/a><\/td>\n            <td><a href=\"\">4q23<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/abetalipoproteinemia\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ea\u30dd\u30bf\u30f3\u30d1\u30af\u8cea\u30ea\u30d1\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4884\">Lipoprotein Lipase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LPL&#038;keywords=LPL\">LPL<\/a><\/td>\n            <td><a href=\"\">8p21.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lipoprotein-lipase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30b7\u30ebCoA\u30aa\u30ad\u30b7\u30c0\u30fc\u30bcI\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4622\">Acyl-CoA Oxidase I Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ACOX1&#038;keywords=ACOX1\">ACOX1<\/a><\/td>\n            <td><a href=\"\">17q25.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/acyl-coa-oxidase-i-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30aa\u30fc\u30e1\u30f3\u75c7\u5019\u7fa4(RAG2\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/254\">Omenn Syndrome (RAG2-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RAG2&#038;keywords=RAG2\">RAG2<\/a><\/td>\n            <td><a href=\"\">11p12<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/omenn-syndrome-rag2-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u795e\u7d4c\u6709\u68d8\u8d64\u8840\u7403\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4051\">Chorea-acanthocytosis<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=VPS13A&#038;keywords=VPS13A\">VPS13A<\/a><\/td>\n            <td><a href=\"\">9q21.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=VPS13A&#038;keywords=VPS13A\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30aa\u30eb\u30cb\u30c1\u30f3\u30a2\u30df\u30ce\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/841\">Ornithine Aminotransferase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=OAT&#038;keywords=OAT\">OAT<\/a><\/td>\n            <td><a href=\"\">10q26.13<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ornithine-aminotransferase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>X\u9023\u9396\u6027\u8108\u7d61\u819c\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/196\">Choroideremia, X-Linked<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CHM&#038;keywords=CHM\">CHM<\/a><\/td>\n            <td><a href=\"\">Xq21.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/choroideremia-x-linked\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9ad8\u30aa\u30eb\u30cb\u30c1\u30f3\u8840\u75c7-\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7-\u30db\u30e2\u30b7\u30c8\u30eb\u30ea\u30f3\u8840\u75c7\uff08HHH\uff09\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/841\">Ornithine Translocase Deficiency Hyperornithinemia-Hyperammonemia -Homocitrullinuria (HHH) Syndrome]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC25A15&#038;keywords=SLC25A15\">SLC25A15<\/a><\/td>\n            <td><a href=\"\">13q14.11<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ornithine-translocase-deficiency-hyperornithinemia-hyperammonemia\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b7\u30c8\u30ea\u30f3\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5434\">Citrin Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC25A13&#038;keywords=SLC25A13\">SLC25A13<\/a><\/td>\n            <td><a href=\"\">7q21.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/citrin-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30da\u30f3\u30c9\u30ec\u30c3\u30c9\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/3147\">Pendred Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC26A4&#038;keywords=SLC26A4\">SLC26A4<\/a><\/td>\n            <td><a href=\"\">7q22.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pendred-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c73<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/335\">Combined Oxidative Phosphorylation Deficiency 3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TSFM&#038;keywords=TSFM\">TSFM<\/a><\/td>\n            <td><a href=\"\">12q14.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/combined-oxidative-phosphorylation-deficiency-3\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30bc\u30eb\u30a6\u30a7\u30fc\u30ac\u30fc\u30b9\u30da\u30af\u30c8\u30eb\u75c7\u5019\u7fa4\uff08PEX1\uff09<\/td>\n            <td><a href=\"https:\/\/www.genedx.com\/\">Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX1&#038;keywords=PEX1\">PEX1<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pendred-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u7570\u5e38\u75c7\u2160\u578b(PMM2\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5410\">Congenital Disorder of Glycosylation, Type 1A (PMM2-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PMM2&#038;keywords=PMM2\">PMM2<\/a><\/td>\n            <td><a href=\"\">16p13.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-disorder-of-glycosylation-type-1a-pmm2-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30bc\u30eb\u30a6\u30a7\u30fc\u30ac\u30fc\u30b9\u30da\u30af\u30c8\u30eb\u75c7\u5019\u7fa4\uff08PEX2\uff09<\/td>\n            <td><a href=\"https:\/\/www.genedx.com\/\">Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX2-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX2&#038;keywords=PEX2\">PEX2<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pendred-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u907a\u4f1d\u6027\u30d5\u30eb\u30af\u30c8\u30fc\u30b9\u4e0d\u8010\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/instructions\/08_05_059\/\">Hereditary Fructose Intolerance<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ALDOB&#038;keywords=ALDOB\">ALDOB<\/a><\/td>\n            <td><a href=\"\">9q31.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hereditary-fructose-intolerance\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30c4\u30a7\u30eb\u30a6\u30a7\u30ac\u30fc\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4622\">Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX1&#038;keywords=PEX1\">PEX1<\/a><\/td>\n            <td><a href=\"\">7q21.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-syndrome-spectrum-pex1-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7cblE\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4860\">Homocystinuria, Type cblE<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MTRR&#038;keywords=MTRR\">MTRR<\/a><\/td>\n            <td><a href=\"\">5p15.31<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/homocystinuria-type-cble\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>X\u9023\u9396\u91cd\u75c7\u8907\u5408\u514d\u75ab\u4e0d\u5168\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/10_01_001\/#:~:text=X%2DSCID%E3%81%AFX%E9%80%A3%E9%8E%96,%E7%9A%84%E3%81%AA%E7%95%B0%E5%B8%B8%E3%81%A7%E3%81%82%E3%82%8B%E3%80%82\">Severe Combined Immunodeficiency, X-Linked<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=IL2RG&#038;keywords=IL2RG\">IL2RG<\/a><\/td>\n            <td><a href=\"\">Xq13.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/severe-combined-immunodeficiency-x-linked\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30cf\u30a4\u30c9\u30ed\u30ec\u30bf\u30e9\u30b9\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hydrolethalus-syndrome\/\">Hydrolethalus Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HYLS1&#038;keywords=HYLS1\">HYLS1<\/a><\/td>\n            <td><a href=\"\">11q24.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u938c\u72b6\u8d64\u8840\u7403\u75c7<\/td>\n            <td><a href=\"https:\/\/www.msdmanuals.com\/ja-jp\/%E3%83%9B%E3%83%BC%E3%83%A0\/13-%E8%A1%80%E6%B6%B2%E3%81%AE%E7%97%85%E6%B0%97\/%E8%B2%A7%E8%A1%80\/%E9%8E%8C%E7%8A%B6%E8%B5%A4%E8%A1%80%E7%90%83%E7%97%87#:~:text=%E9%8E%8C%E7%8A%B6%E8%B5%A4%E8%A1%80%E7%90%83%E7%97%87%E3%81%AF,%E9%BB%84%E7%96%B8%E3%81%8C%E3%81%BF%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%80%82\">Sickle-Cell Disease<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HBB&#038;keywords=HBB\">HBB<\/a><\/td>\n            <td><a href=\"\">11p15.4<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sickle-cell-disease\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5c01\u5165\u4f53\u30df\u30aa\u30d1\u30c1\u30fc\u2161\u578b(GNE\u30df\u30aa\u30d1\u30c1\u30fc)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4002\">Inclusion Body Myopathy, Type 2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GNE&#038;keywords=GNE\">GNE<\/a><\/td>\n            <td><a href=\"\">9p13.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/inclusion-body-myopathy-type-2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b7\u30a7\u30fc\u30b0\u30ec\u30f3\u30fb\u30e9\u30eb\u30bd\u30f3\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/288\">Sj\u00f6gren-Larsson Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ALDH3A2&#038;keywords=ALDH3A2\">ALDH3A2<\/a><\/td>\n            <td><a href=\"\">17p11.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sjogren-larsson-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a4\u30bd\u5409\u8349\u9178\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4817\">Isovaleric Acidemia<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=IVD&#038;keywords=IVD\">IVD<\/a><\/td>\n            <td><a href=\"\">15q15.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/isovaleric-acidemia\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u4e00\u6b21\u6027\u30cd\u30d5\u30ed\u30fc\u30bc\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4516\">Steroid-Resistant Nephrotic Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NPHS2&#038;keywords=NPHS2\">NPHS2<\/a><\/td>\n            <td><a href=\"\">1q25.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/steroid-resistant-nephrotic-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7MUT0\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4859\">Methylmalonic Aciduria, Type Mut(0)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MMUT\">MMACHC<\/a><\/td>\n            <td><a href=\"\">1p34.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-aciduria-type-mut0\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b9\u30c8\u30a5\u30fc\u30d6\u30fb\u30a6\u30a3\u30fc\u30c9\u30e1\u30f3\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/3958\">Stuve-Wiedemann Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LIFR&#038;keywords=LIFR\">LIFR<\/a><\/td>\n            <td><a href=\"\">5p13.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/stuve-wiedemann-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u3092\u4f34\u3046\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7cblD\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4859\">Methylmalonic Aciduria and Homocystinuria, Type cblD<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MMACHC&#038;keywords=MMACHC\">MMADHC<\/a><\/td>\n            <td><a href=\"\">2q23.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-aciduria-and-homocystinuria-type-cbld\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d0\u30eb\u30c7\u30fc\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4(BBS12\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/858\">Bardet Biedl Syndrome (BBS12-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BBS12&#038;keywords=BBS12\">BBS12<\/a><\/td>\n            <td><a href=\"\">4q27<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bardet-biedl-syndrome-bbs12-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e0\u30b3\u591a\u7cd6\u75c7\u2161\u578b(\u30cf\u30f3\u30bf\u30fc\u75c7\u5019\u7fa4\u3001X\u9023\u9396\u6027)<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_076\/\">Mucopolysaccharidosis, Type II [Hunter Syndrome], X-Linked<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=IDS&#038;keywords=IDS\">IDS<\/a><\/td>\n            <td><a href=\"\">Xq28<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-type-ii-hunter-syndrome-x-linked\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d9\u30fc\u30bf\u30b5\u30e9\u30bb\u30df\u30a2<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/847\">Beta Thalassemia<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HBB&#038;keywords=HBB\">HBB<\/a><\/td>\n            <td><a href=\"\">11p15.4<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/beta-thalassemia\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e0\u30b3\u591a\u7cd6\u75c7III\u578b(\u30b5\u30f3\u30d5\u30a3\u30ea\u30c3\u30dd\u75c7\u5019\u7fa4\uff09<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_077\/\">Mucopolysaccharidosis, Type IIIC [Sanfilippo C]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HGSNAT&#038;keywords=HGSNAT\">HGSNAT<\/a><\/td>\n            <td><a href=\"\">8p11.21-p11.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-type-iiic-sanfilippo-c\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d3\u30aa\u30c1\u30cb\u30c0\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4826\">Biotinidase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BTD&#038;keywords=BTD\">BTD<\/a><\/td>\n            <td><a href=\"\">3p25.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/biotinidase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30de\u30eb\u30c1\u30d7\u30eb\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_094\/\">Multiple Sulfatase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SUMF1&#038;keywords=SUMF1\">SUMF1<\/a><\/td>\n            <td><a href=\"\">3p26<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/multiple-sulfatase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ab\u30ca\u30d0\u30f3\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/636\">Canavan Disease<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ASPA&#038;keywords=ASPA\">ASPA<\/a><\/td>\n            <td><a href=\"\">17p13.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/canavan-disease\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\uff08DNAH5\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/254\">Primary Ciliary Dyskinesia (DNAH5-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DNAH5&#038;keywords=DNAH5\">DNAH5<\/a><\/td>\n            <td><a href=\"\">5p15.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-ciliary-dyskinesia-dnah5-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ab\u30fc\u30da\u30f3\u30bf\u30fc\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4679\">Carpenter Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RAB23&#038;keywords=RAB23\">RAB23<\/a><\/td>\n            <td><a href=\"\">6p12.1-p11.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/carpenter-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\uff08DNAI1\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/03_05_007\/\">Primary Ciliary Dyskinesia (DNAI1-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DNAI1&#038;keywords=DNAI1\">DNAI1<\/a><\/td>\n            <td><a href=\"\">14q24.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-ciliary-dyskinesia-dnai1-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7cd6\u539f\u75c5\u2160\u578b(Ia)<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_05_066\/\">Glycogen Storage Disease, Type 1A(BBS12-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=G6PC1\">G6PC<\/a><\/td>\n            <td><a href=\"\">17q21<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-1a\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u767a\u6027\u9ad8\u30b7\u30e5\u30a6\u9178\u5c3f\u75c73\u578b<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_02_035\/\">Primary Hyperoxaluria, Type 3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HOGA1&#038;keywords=HOGA1\">HOGA1<\/a><\/td>\n            <td><a href=\"\">10q24.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-hyperoxaluria-type-3%e3%80%80\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7cd6\u539f\u75c5\u2160\u578b(Ib)<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_05_066\/\">Glycogen Storage Disease, Type 1B<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC37A4&#038;keywords=SLC37A4\">SLC37A4<\/a><\/td>\n            <td><a href=\"\">11q23.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-1b\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6fc3\u5316\u7570\u9aa8\u75c7<\/td>\n            <td><a href=\"https:\/\/webview.isho.jp\/journal\/detail\/abs\/10.11477\/mf.1408904556\">Pycnody sostosis<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CTSK&#038;keywords=CTSK\">CTSK<\/a><\/td>\n            <td><a href=\"\">1q21.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pycnody-sostosis\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7cd6\u539f\u75c5\u2162\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/41\">Glycogen Storage Disease, Type 3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AGL&#038;keywords=AGL\">AGL<\/a><\/td>\n            <td><a href=\"\">1p21.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-type-3\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d4\u30eb\u30d3\u30f3\u9178\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4826\">Pyruvate Dehydrogenase Deficiency (PDHB-Related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PDHB&#038;keywords=PDHB\">PDHB<\/a><\/td>\n            <td><a href=\"\">3p14.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pyruvate-dehydrogenase-deficiency-pdhb-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7cd6\u539f\u75c5VII\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4712\">Glycogen Storage Disease, Type 7<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PFKM&#038;keywords=PFKM\">BCS1L<\/a><\/td>\n            <td><a href=\"\">2q35<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-type-7\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a8\u30ab\u30eb\u30c7\u30a3\u30fb\u30b0\u30c6\u30a3\u30a8\u30fc\u30eb\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/2364\">Aicardi-Gouti\u00e8res Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SAMHD1&#038;keywords=SAMHD1\">SAMHD1<\/a><\/td>\n            <td><a href=\"\">20q11.23<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/aicardi-goutieres-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b0\u30ec\u30a4\u30b7\u30eb\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/gracile-syndrome\/\">GRACILE Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BCS1L&#038;keywords=BCS1L\">BCS1L<\/a><\/td>\n            <td><a href=\"\">2q35<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/gracile-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4348\">Alport Syndrome, X-Linked<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=COL4A5&#038;keywords=COL4A5\">COL4A5<\/a><\/td>\n            <td><a href=\"\">Xq22.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alport-syndrome-x-linked\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9577\u93963-\u30d2\u30c9\u30ed\u30ad\u30b7\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5432\">Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HADHA&#038;keywords=HADHA\">HADHA<\/a><\/td>\n            <td><a href=\"\">2p23<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30eb\u30b9\u30c8\u30ec\u30fc\u30e0\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/academic-accelerator.com\/Manuscript-Generator\/jp\/Alstrom-Syndrome\">Alstrom Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ALMS1&#038;keywords=ALMS1\">ALMS1<\/a><\/td>\n            <td><a href=\"\">2p13.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alstrom-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ea\u30b8\u30f3\u5c3f\u6027\u86cb\u767d\u4e0d\u8010\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4681\">Lysinuric Protein Intolerance<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC7A7&#038;keywords=SLC7A7\">SLC7A7<\/a><\/td>\n            <td><a href=\"\">14q11.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lysinuric-protein-intolerance\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30f3\u30c0\u30fc\u30de\u30f3\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/andermann-syndrome\/#frequency\">Andermann Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC12A6&#038;keywords=SLC12A6\">SLC12A6<\/a><\/td>\n            <td><a href=\"\">15q14<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/andermann-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e1\u30fc\u30d7\u30eb\u30b7\u30ed\u30c3\u30d7\u5c3f\u75c7\u2160B\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4814\">Maple Syrup Urine Disease, Type 1B<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BCKDHB&#038;keywords=BCKDHB\">BCKDHB<\/a><\/td>\n            <td><a href=\"\">6q14.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/maple-syrup-urine-disease-type-1b\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30ed\u30de\u30bf\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/1536\">Aromatase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CYP19A1&#038;keywords=CYP19A1\">CYP19A1<\/a><\/td>\n            <td><a href=\"\">15q21.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/aromatase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7(MMAA\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4859\">Methylmalonic Acidemia (MMAA-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MMAA&#038;keywords=MMAA\">MMAA<\/a><\/td>\n            <td><a href=\"\">4q31.21<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-acidemia-mmaa-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u91cd\u75c7\u5148\u5929\u6027\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7 (HAX1\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/10_05_035\/\">Congenital Neutropenia (HAX1-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HAX1&#038;keywords=HAX1\">HAX1<\/a><\/td>\n            <td><a href=\"\">1q21.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-neutropenia-hax1-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30af\u30ea\u30b0\u30e9\u30fc\u30fb\u30ca\u30b8\u30e3\u30fc\u75c7\u5019\u7fa4\u2160\u578b<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/12_11_034\/\">Crigler Najjar Syndrome, Type I<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=UGT1A1&#038;keywords=UGT1A1\">UGT1A1<\/a><\/td>\n            <td><a href=\"\">2q37.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/crigler-najjar-syndrome-type-i\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30c4\u30a7\u30eb\u30a6\u30a7\u30ac\u30fc\u75c7\u5019\u7fa4\uff08PEX2\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4622\">Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX2-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX2&#038;keywords=PEX2\">PEX2<\/a><\/td>\n            <td><a href=\"\">8q21.13<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-syndrome-spectrum-pex2-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u56a2\u80de\u6027\u7dda\u7dad\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4532\">Cystic Fibrosis<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CFTR&#038;keywords=CFTR\">CFTR<\/a><\/td>\n            <td><a href=\"\">7q31.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/cystic-fibrosis\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d5\u30a7\u30cb\u30eb\u30b1\u30c8\u30f3\u5c3f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4747\">Phenylketonurea<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PAH&#038;keywords=PAH\">PAH<\/a><\/td>\n            <td><a href=\"\">12q23.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/phenylketonurea\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7b2cXI\u56e0\u5b50\u6b20\u4e4f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/09_21_043\/\">Factor XI Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=F11&#038;keywords=F11\">F11<\/a><\/td>\n            <td><a href=\"\">4q35.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/factor-xi-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6a4b\u5c0f\u8133\u5f62\u6210\u4e0d\u51681A\u578b<\/td>\n            <td><a href=\"https:\/\/www.malacards.org\/card\/pontocerebellar_hypoplasia_type_1a_2\">Pontocerebellar Hypoplasia, Type 1A<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=VRK1&#038;keywords=VRK1\">VRK1<\/a><\/td>\n            <td><a href=\"\">14q32.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-type-1a\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5bb6\u65cf\u6027\u81ea\u5f8b\u795e\u7d4c\u5931\u8abf\u75c7<\/td>\n            <td><a href=\"https:\/\/www.kyoto-u.ac.jp\/ja\/research-news\/2021-07-28-2\">Familial Dysautonomia<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ELP1\">IKBKAP<\/a><\/td>\n            <td><a href=\"\">9q31.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/familial-dysautonomia\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6a4b\u5c0f\u8133\u5f62\u6210\u4e0d\u51682D\u578b<\/td>\n            <td><a href=\"https:\/\/www.malacards.org\/card\/pontocerebellar_hypoplasia_type_2d_2\">Pontocerebellar Hypoplasia, Type 2D<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SEPSECS&#038;keywords=SEPSECS\">SEPSECS<\/a><\/td>\n            <td><a href=\"\">4p15.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-type-2d\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u95a2\u9023\u75be\u60a3<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4552\">Joubert Syndrome, Type 2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TMEM216&#038;keywords=TMEM216\">LAMC2<\/a><\/td>\n            <td><a href=\"\">1q25.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-type-2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6a4b\u5c0f\u8133\u5f62\u6210\u4e0d\u51682E\u578b<\/td>\n            <td><a href=\"https:\/\/www.malacards.org\/card\/pontocerebellar_hypoplasia_type_2e?search=Pontocerebellar%20Hypoplasia%2C%20Type%202E#sources\">Pontocerebellar Hypoplasia, Type 2E<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=VPS53&#038;keywords=VPS53\">VPS53<\/a><\/td>\n            <td><a href=\"\">17p13.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-type-2e\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u63a5\u5408\u90e8\u578b\u8868\u76ae\u6c34\u75b1\u75c7(\u30d8\u30eb\u30ea\u30c3\u30c4\u578b)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5339\">Junctional Epidermolysis Bullosa, Herlitz Type<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LAMC2&#038;keywords=LAMC2\">LAMC2<\/a><\/td>\n            <td><a href=\"\">1q25.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/junctional-epidermolysis-bullosa-herlitz-type\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30c6\u30a4\u30b5\u30c3\u30af\u30b9\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Tay-Sachs Disease<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HEXA&#038;keywords=HEXA\">HEXA<\/a><\/td>\n            <td><a href=\"\">15q23<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/tay-sachs-disease\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8449\u72b6\u9b5a\u9c57\u766c\u2160\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/139\">Lamellar Ichthyosis, Type 1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TGM1&#038;keywords=TGM1\">TGM1<\/a><\/td>\n            <td><a href=\"\">14q12<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lamellar-ichthyosis-type-1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa4\u30bf\u30a4\u30d71F<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4624\">Usher Syndrome, Type 1F<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PCDH15&#038;keywords=PCDH15\">PCDH15<\/a><\/td>\n            <td><a href=\"\">10q21.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/usher-syndrome-type-1f\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ec\u30fc\u30d9\u30eb\u5148\u5929\u6027\u9ed2\u5185\u969c(LCA5\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4660\">Leber Congenital Amaurosis (LCA5-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LCA5&#038;keywords=LCA5\">LCA5<\/a><\/td>\n            <td><a href=\"\">6q14.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leber-congenital-amaurosis-lca5-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa4\u30bf\u30a4\u30d73<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4624\">Usher Syndrome, Type 3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CLRN1&#038;keywords=CLRN1\">CLRN1<\/a><\/td>\n            <td><a href=\"\">3q25.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/usher-syndrome-type-3\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ea\u30fc\u8133\u75c7(\u30d5\u30e9\u30f3\u30b9-\u30ab\u30ca\u30c0\u578b\uff09<\/td>\n            <td><a href=\"\">Leigh Syndrome, French-Canadian Type<\/a><\/td>\n            <td><a href=\"\">LRPPRC<\/a><\/td>\n            <td><a href=\"\">2p21<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leigh-syndrome-french-canadian-type\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a6\u30a9\u30eb\u30de\u30f3\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Wolman Disease<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LIPA&#038;keywords=LIPA\">LIPA<\/a><\/td>\n            <td><a href=\"\">10q23.31<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/wolman-disease\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>X\u9023\u9396\u6027\u30df\u30aa\u30c1\u30e5\u30d6\u30e9\u30fc\u30df\u30aa\u30d1\u30c1\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4726\">Myotubular Myopathy, X-Linked<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MTM1&#038;keywords=MTM1\">MTM1<\/a><\/td>\n            <td><a href=\"\">Xq28<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/myotubular-myopathy-x-linked\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u5c3f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5449\">3-Methylglutaconic Aciduria, Type 3 [Costeff Syndrome], <\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=OPA3&#038;keywords=OPA3\">OPA3<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylglutaconuria\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ca\u30d0\u30db\u795e\u7d4c\u809d\u969c\u5bb3(MPV17\u95a2\u9023\u306e\u809d\u8133\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u67af\u6e07\u75c7\u5019\u7fa4)<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/mpv17_mtDNADS.htm\">Navajo Neurohepatopathy [MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MPV17&#038;keywords=MPV17\">MPV17<\/a><\/td>\n            <td><a href=\"\">2p23.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/navajo-neurohepatopathy-mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7121\u03b2\u30ea\u30dd\u30bf\u30f3\u30d1\u30af\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4574\">Abetalipoproteinemia<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MTTP&#038;keywords=MTTP\">MTTP<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/beta-lipoproteinemia\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6025\u6027\u4e73\u5e7c\u5150\u809d\u4e0d\u5168(TRMU\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/12_06_019\/\">Acute Infantile Liver Failure (TRMU-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TEMU&#038;keywords=TEMU\">TEMU<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/acute-infantile-liver-failure\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7(CLN8\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/cln8-disease\/\">Neuronal Ceroid Lipofuscinosis (CLN8-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CLN8&#038;keywords=CLN8\">CLN8<\/a><\/td>\n            <td><a href=\"\">8p23<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-cln8-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30eb\u30ae\u30cb\u30ce\u30b3\u30cf\u30af\u9178\u30ea\u30a2\u30fc\u30bc\u6b20\u4e4f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4732\">Argininosuccinate Lyase Deficiency, ASL<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ASL&#038;keywords=ASL\">ASL<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/argininosuccinate-lyase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7(MFSD8\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_101\/\">Neuronal Ceroid Lipofuscinosis (MFSD8-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MFSD8&#038;keywords=MFSD8\">MFSD8<\/a><\/td>\n            <td><a href=\"\">4q28.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-mfsd8-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6bdb\u7d30\u8840\u7ba1\u62e1\u5f35\u6027\u904b\u52d5\u5931\u8abf\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/2370\">Ataxia-Telangiectasia, ATM<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ATM&#038;keywords=ATM\">ATM<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/telangiectatic-ataxia\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7(TPP1\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/instructions\/08_06_101\/\">Neuronal Ceroid Lipofuscinosis (TPP1-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TPP1&#038;keywords=TPP1\">TPP1<\/a><\/td>\n            <td><a href=\"\">11p15.4<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-tpp1-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b7\u30e3\u30eb\u30eb\u30dc\u30ef\u30fb\u30b5\u30b0\u30cd\u306e\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u75d9\u6027\u904b\u52d5\u5931\u8abf\u75c7<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/\">Autosomal Recessive Spastic Ataxia of Charlevoix- Saguenay, SACS<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SACS&#038;keywords=SACS\">SACS<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-sacs\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ca\u30a4\u30df\u30fc\u30d8\u30f3\u67d3\u8272\u4f53\u4e0d\u5b89\u5b9a\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/254\">Nijmegen Breakage Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NBN&#038;keywords=NBN\">NBN<\/a><\/td>\n            <td><a href=\"\">8q21.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nijmegen-breakage-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u767a\u6027\u514d\u75ab\u4e0d\u5168\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/254\">Bare Lymphocyte Syndrome (CIITA-related), CIITA<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CIITA&#038;keywords=CIITA\">CIITA<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-immunodeficiency-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4522\">Retinal Dystrophy (RLBP1-related) [Bothnia Retinal Dystrophy]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RLBP1&#038;keywords=RLBP1\">RLBP1<\/a><\/td>\n            <td><a href=\"\">15q26.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinal-dystrophy-rlbp1-related-bothnia-retinal-dystrophy\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>\n            <td><a href=\"https:\/\/jglobal.jst.go.jp\/detail?JGLOBAL_ID=201202267255981122\">\u201cCombined Oxidative Phosphorylation Deficiency 1, GFM1\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GFM1&#038;keywords=GFM1\">GFM1<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondria\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u578b\u5148\u5929\u6027\u30cd\u30d5\u30ed\u30fc\u30bc\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/02_01_001\/\">Congenital Finnish Nephrosis, NPHS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NPHS1&#038;keywords=NPHS1\">NPHS1<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/finnish-congenital-nephrotic-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7-25<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/UR-DBMS\/SyndromeDetail.php?recid=4091&#038;winid=1\">Retinitis Pigmentosa 25 (EYS-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=EYS&#038;keywords=EYS\">EYS<\/a><\/td>\n            <td><a href=\"\">6q12<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-25-eys-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/3997\">\u201cCongenital Myasthenic Syndrome (RAPSN-related), RAPSN\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RAPSN&#038;keywords=RAPSN\">RAPSN<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-amyotrophic-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7-59<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/196\">Retinitis Pigmentosa 59 (DHDDS-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DHDDS&#038;keywords=DHDDS\">DHDDS<\/a><\/td>\n            <td><a href=\"\">1p36.11<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-59-dhdds-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u89d2\u819c\u5185\u76ae\u6027\u7570\u6804\u990a\u75c7<\/td>\n            <td><a href=\"https:\/\/jglobal.jst.go.jp\/detail?JGLOBAL_ID=201002228375236137\">Corneal Dystrophy and Perceptive Deafness, SLC4A11<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC4A11&#038;keywords=SLC4A11\">SLC4A11<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/corneal-endothelial-cell-atrophy\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b5\u30f3\u30d5\u30a3\u30ea\u30dd\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.jrps.org\/aiyakai\/local\/back\/2008spring\/07.html\">Sanfilippo Syndrome, Type D [Mucopolysaccharidosis IIID]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GNS&#038;keywords=GNS\">GNS<\/a><\/td>\n            <td><a href=\"\">12q14.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sanfilippo-syndrome-type-d-mucopolysaccharidosis-iiid\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8133\u30af\u30ec\u30a2\u30c1\u30f3\u6b20\u4e4f\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/22426\">Creatine Transporter Defect [Cerebral Creatine Deficiency Syndrome 1] X-Linked, SLC6A8<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC6A8&#038;keywords=SLC6A8\">SLC6A8<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/cerebral-creatine-deficiency-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u91cd\u75c7\u8907\u5408\u514d\u75ab\u4e0d\u5168\u75c7\uff08\u30a2\u30b5\u30d0\u30b9\u30ab\u578b\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/254\">Severe Combined Immunodeficiency, Type Athabaskan<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DCLRE1C&#038;keywords=DCLRE1C\">DCLRE1C<\/a><\/td>\n            <td><a href=\"\">10p13<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/severe-combined-immunodeficiency-type-athabaskan\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b7\u30b9\u30c1\u30ce\u30fc\u30b7\u30b9\uff08\u30b7\u30b9\u30c1\u30f3\u75c7\uff09<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/ctns.htm\">Cystinosis, CTNS<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CTNS&#038;keywords=CTNS\">CTNS<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/cystinosis\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>SLC35A3\u5909\u7570\u306b\u3088\u308b\u95a2\u7bc0\u62d8\u7e2e\u3001\u7cbe\u795e\u9045\u6ede\u3001\u304a\u3088\u3073\u767a\u4f5c<\/td>\n            <td><a href=\"https:\/\/www.msdmanuals.com\/ja-jp\/professional\/19-%E5%B0%8F%E5%85%90%E7%A7%91\/%E9%A0%AD%E8%93%8B%E9%A1%94%E9%9D%A2%E9%83%A8%E3%81%8A%E3%82%88%E3%81%B3%E7%AD%8B%E9%AA%A8%E6%A0%BC%E7%B3%BB%E3%81%AE%E5%85%88%E5%A4%A9%E7%95%B0%E5%B8%B8\/%E5%85%88%E5%A4%A9%E6%80%A7%E5%A4%9A%E7%99%BA%E6%80%A7%E9%96%A2%E7%AF%80%E6%8B%98%E7%B8%AE%E7%97%87?ruleredirectid=465\">Arthrogryposis Mental Retardation Seizures<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC35A3&#038;keywords=SLC35A3\">SLC35A3<\/a><\/td>\n            <td><a href=\"\">1p21.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/arthrogryposis-mental-retardation-seizures\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4522\">Duchenne Muscular Dystrophy, X-linked, DMD l<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DMD&#038;keywords=DMD\">DMD<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/duchenne-muscular-dystrophy\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>SLC35A3\u5909\u7570\u306b\u3088\u308b\u95a2\u7bc0\u62d8\u7e2e\u3001\u7cbe\u795e\u9045\u6ede\u3001\u304a\u3088\u3073\u767a\u4f5c<\/td>\n            <td><a href=\"https:\/\/www.msdmanuals.com\/ja-jp\/professional\/19-%E5%B0%8F%E5%85%90%E7%A7%91\/%E9%A0%AD%E8%93%8B%E9%A1%94%E9%9D%A2%E9%83%A8%E3%81%8A%E3%82%88%E3%81%B3%E7%AD%8B%E9%AA%A8%E6%A0%BC%E7%B3%BB%E3%81%AE%E5%85%88%E5%A4%A9%E7%95%B0%E5%B8%B8\/%E5%85%88%E5%A4%A9%E6%80%A7%E5%A4%9A%E7%99%BA%E6%80%A7%E9%96%A2%E7%AF%80%E6%8B%98%E7%B8%AE%E7%97%87?ruleredirectid=465\">Arthrogryposis Mental Retardation Seizures<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC35A3&#038;keywords=SLC35A3\">SLC35A3<\/a><\/td>\n            <td><a href=\"\">1p21.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/arthrogryposis-mental-retardation-seizures\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>Emery-Dreifuss \u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/11_20_046\/\">Emery-Dreifuss Muscular Dystrophy 1, X-Linked, EMD<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=EMD&#038;keywords=EMD\">EMD<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/muscular-dystrophy-of-emery-dreifuss-type\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/asparagine-synthetase-deficiency\/\">Asparagine Synthetase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ASNS&#038;keywords=ASNS\">ASNS<\/a><\/td>\n            <td><a href=\"\">7q21.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/asparagine-synthetase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5\u3001X\u9023\u9396\u6027<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Fabry Disease, X-Linked, GLA<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GLA&#038;keywords=GLA\">GLA<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fabry-disease\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30b9\u30d1\u30eb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30f3\u5c3f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Aspartylglycosaminuria<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AGA&#038;keywords=AGA\">AGA<\/a><\/td>\n            <td><a href=\"\">4q34.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/aspartylglycosaminuria\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5bb6\u65cf\u6027\u5730\u4e2d\u6d77\u71b1<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4448\">Familial Mediterranean Fever, MEFV<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MEFV&#038;keywords=MEFV\">MEFV<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/familial-mediterranean-fever\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u591a\u767a\u6027\u56a2\u80de\u814e<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/295\">Autosomal Recessive Polycystic Kidney Disease<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PKHD1&#038;keywords=PKHD1\">PKHD1<\/a><\/td>\n            <td><a href=\"\">6p12.3-p12.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-polycystic-kidney-disease\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ac\u30e9\u30af\u30c8\u30fc\u30b9-1-\u30ea\u30f3\u9178\u30a6\u30ea\u30b8\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4829\">Galactosemia, GALT u<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GALT&#038;keywords=GALT\">GALT<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/galactose-1-phosphate-uridyltransferase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d0\u30eb\u30c7\u30fc\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4(BBS1\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/858\">Bardet-Biedl Syndrome (BBS1-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BBS1&#038;keywords=BBS1\">BBS1<\/a><\/td>\n            <td><a href=\"\">11q13.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bardet-biedl-syndrome-bbs1-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u907a\u4f1d\u6027\u30d8\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b9<\/td>\n            <td><a href=\"https:\/\/minerva-clinic.or.jp\/genetictesting\/gene-list\/t\/tfr2\/\">Hemochromatosis, Type 3 (TFR2-related), TFR2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TFR2&#038;keywords=TFR2\">TFR2<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hereditary-haemochromatosis\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d5\u30a1\u30f3\u30b3\u30cb\u8ca7\u8840C\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4442\">Fanconi Anemia, Type C<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=FANCC&#038;keywords=FANCC\">FANCC<\/a><\/td>\n            <td><a href=\"\">9q22.32<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fanconi-anemia-type-c\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u773c\u76ae\u819a\u767d\u76ae\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4493\">Hermansky-Pudlak Syndrome (HPS3-related), HPS3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HPS3&#038;keywords=HPS3\">HPS3<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/eyelid-leucoderma\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d5\u30a1\u30f3\u30b3\u30cb\u8ca7\u8840G\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4441\">Fanconi Anemia, Type G<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=FANCG&#038;keywords=FANCG\">FANCG<\/a><\/td>\n            <td><a href=\"\">9p13.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fanconi-anemia-type-g\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u4f4e\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u75c7<\/td>\n            <td><a href=\"https:\/\/mgen.jihs.go.jp\/disease\/83#:~:text=%E4%BD%8E%E3%83%9B%E3%82%B9%E3%83%95%E3%82%A1%E3%82%BF%E3%83%BC%E3%82%BC%E7%97%87%20(Hypophosphatasia%3A%20HP,%E3%82%92%E5%91%88%E3%81%99%E3%82%8B%E7%96%BE%E6%82%A3%E3%81%A7%E3%81%82%E3%82%8B%E3%80%82\">Hypophosphatasia (ALPL-related), ALPL<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ALPL&#038;keywords=ALPL\">ALPL<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hypophosphatasia\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30db\u30b9\u30db\u30b0\u30ea\u30bb\u30ea\u30f3\u9178\u8131\u6c34\u7d20\u9175\u7d20\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/ur-dbms\/SyndromeDetail.php?recid=3970&#038;winid=1\">\u201c3-Phosphoglycerate Dehydrogenase Deficiency, PHGDH\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PHGDH&#038;keywords=PHGDH\">PHGDH<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/3-phosphoglycerate-dehydrogenase-deficiency-phgdh\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b4\u30fc\u30b7\u30a7\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Gaucher Disease<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GBA1\">GBA<\/a><\/td>\n            <td><a href=\"\">1q21<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/gaucher-disease\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b0\u30eb\u30bf\u30eb\u9178\u8840\u75c7\u2161A\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4820\">Glutaric Acidemia, Type 2A<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ETFA&#038;keywords=ETFA\">ETFA<\/a><\/td>\n            <td><a href=\"\">15q24.2-q24.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glutaric-acidemia-type-2a\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u975e\u30b1\u30c8\u30fc\u30b7\u30b9\u578b\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7(\u30b0\u30ea\u30b7\u30f3\u8133\u75c7)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5441\">Glycine Encephalopathy (GLDC-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GLDC&#038;keywords=GLDC\">GLDC<\/a><\/td>\n            <td><a href=\"\">9p24.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycine-encephalopathy-gldc-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u767d\u8cea\u6d88\u5931\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5417\">Leukoencephalopathy with Vanishing White Matter<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=EIF2B5&#038;keywords=EIF2B5\">EIF2B5<\/a><\/td>\n            <td><a href=\"\">3q27.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leukoencephalopathy-with-vanishing-white-matter\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n    <\/table>\n\n    <table class=\"disease_list\">\n        <tr>\n            <th>\u75be\u60a3\u540d<\/th>\n            <th>\u75be\u60a3\u540d EN<\/th>\n            <th>\u5f53\u9662\u3067\u8abf\u3079\u3089\u308c\u308b\u907a\u4f1d\u5b50<\/th>\n            <th>\u8a73\u7d30\u60c5\u5831<\/th>\n        <\/tr>\n        <tr>\n            <td>\u81ea\u5df1\u514d\u75ab\u6027\u591a\u5185\u5206\u6ccc\u817a\u75c7\u5019\u7fa4 1\u578b<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/05_16_029\/\">Autoimmune Polyglandular Syndrome, Type 1, AIRE<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AIRE&#038;keywords=AIRE\">AIRE<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autoimmune-polyendocrine-gland-syndrome-type1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30c4\u30a7\u30eb\u30a6\u30a7\u30ac\u30fc\u75c7\u5019\u7fa4\uff08PEX1\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4622\">Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related), PEX1 <\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX1&#038;keywords=PEX1\">PEX1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-syndrome-spectrum-pex1-related-pex1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u81a0\u69d8\u6ef4\u72b6\u89d2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/6016\">Bartter Syndrome (BSND-related), BSND<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BSND&#038;keywords=BSND\">BSND<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/gelatinous-drop-like-corneal-dystrophy\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u95a2\u9023\u8907\u5408\u4e0b\u5782\u4f53\u30db\u30eb\u30e2\u30f3\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4018\">Pituitary Hormone Deficiency, Combined 3, LHX3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LHX3&#038;keywords=LHX3\">LHX3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pituitary-hormone-deficiency-combined-3-lhx3\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d2\u30eb\u30b7\u30e5\u30b9\u30d7\u30eb\u30f3\u30b0\u75c5<\/td>\n            <td><a href=\"https:\/\/www.jstage.jst.go.jp\/article\/jjsps\/14\/3\/14_KJ00003304927\/_article\/-char\/ja\/\">Cartilage-Hair Hypoplasia, RMRP<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RMRP&#038;keywords=RMRP\">RMRP<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hirschsprungs-disease\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u767a\u6027\u6bdb\u69d8\u4f53\u30b8\u30b9\u30ad\u30cd\u30b8\u30a2\u3001DNAI1\u95a2\u9023\u3001DNAI1<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/03_05_007\/\">Primary Ciliary Dyskinesia, DNAI1-related, DNAI1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DNAI1&#038;keywords=DNAI1\">DNAI1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-ciliary-dyskinesia\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d2\u30c8\u30a2\u30eb\u30ae\u30cb\u30ce\u30b9\u30af\u30b7\u30cd\u30fc\u30c8\u30b7\u30f3\u30c6\u30bf\u30fc\u30bc<\/td>\n            <td><a href=\"https:\/\/jglobal.jst.go.jp\/detail?JGLOBAL_ID=201702259224031034\">Citrullinemia, Type 1, ASS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ASS1&#038;keywords=ASS1\">ASS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/citrullinemia-type-1-ass1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u767a\u6027\u9ad8\u30b7\u30e5\u30a6\u9178\u5c3f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_02_035\/\">Primary Hyperoxaluria, Type 2, GRHPR<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GRHPR&#038;keywords=GRHPR\">GRHPR<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-hyperoxaluria-type-2-grhpr\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u7570\u5e38\u75c7<\/td>\n            <td><a href=\"https:\/\/www.wch.opho.jp\/data\/media\/opho\/page\/hospital\/medical\/cdg_diagnosis\/cdg2.pdf\">Congenital Disorder of Glycosylation, Type 1B, MPI<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MPI&#038;keywords=MPI\">MPI<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-dysglycosylation\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d4\u30eb\u30d3\u30f3\u9178\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u8907\u5408\u4f53\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pyruvate-dehydrogenase-deficiency-pdhb-related\/\">\u201cPyruvate Dehydrogenase Deficiency (PDHB-related), PDHB\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PDHB&#038;keywords=PDHB\">PDHB<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pyruvate-dehydrogenase-deficiency-pdhb-related-2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u7121\u75db\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/2351\">\u201cCongenital Insensitivity to Pain with Anhidrosis, NTRK1\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NTRK1&#038;keywords=NTRK1\">NTRK1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-painlessness\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>RLBP1\u95a2\u9023\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc (\u30dc\u30b9\u30cb\u30a2\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc)<\/td>\n            <td><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK564379\/\">Retinal Dystrophy (RLBP1-related) [Bothnia Retinal Dystrophy], RLBP<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RLBP&#038;keywords=RLBP\">RLBP<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinal-dystrophy-rlbr\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30eb\u30c9\u30b9\u30c6\u30ed\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/05_23_047\/\">Corticosterone Methyloxidase Deficiency, CYP11B2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CYP11B2&#038;keywords=CYP11B2\">CYP11B2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/aldosterone-synthase-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7 26<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/196\">Retinitis Pigmentosa 26, CERKL<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CERKL&#038;keywords=CERKL\">CERKL<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-26\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>D-\u4e8c\u982d\u9175\u7d20(DBP)\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/minerva-clinic.or.jp\/genetictesting\/gene-list\/h\/hsd17b4\/\">D-Bifunctional Protein Deficiency, HSD17B4<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HSD17B4&#038;keywords=HSD17B4\">HSD17B4<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/d-biparasitic-enzyme-dbp-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>1\u578b\u7a7f\u5b54\u6027\u8edf\u9aa8\u7570\u5f62\u6210\u75c7\uff08Rhizomelic Chondrodysplasia Punctata\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4571\">Rhizomelic Chondrodysplasia Punctata, Type 1, PEX7<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX7&#038;keywords=PEX7\">PEX7<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/rhizomelic-chondrodysplasia-punctata-type-1-pex7\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8868\u76ae\u6c34\u75b1\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5339\">\u201cDystrophic Epidermolysis Bullosa (COL7A1-related), COL7A1\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=COL7A1&#038;keywords=COL7A1\">COL7A1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/epidermal-herpetiformis\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b5\u30e9\u30fc\u75c5<\/td>\n            <td><a href=\"https:\/\/plaza.umin.ac.jp\/~pmd\/guideline10.html\">Salla Disease, SLC17A5<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC17A5&#038;keywords=SLC17A5\">SLC17A5<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/salla-disease\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u702c\u5ddd\u75c7\u5019\u7fa4\u3001\uff08TH\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/562\">Segawa Syndrome, (TH-related), TH<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TH&#038;keywords=TH\">TH<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/segawa-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5909\u7570\u95a2\u9023\u7db2\u819c\u5909\u6027\u75c7<\/td>\n            <td><a href=\"https:\/\/www.gii.co.jp\/report\/del1050813-nr2e3-mutation-associated-retinal-degeneration.html\">Enhanced S-Cone Syndrome, NR2E3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NR2E3&#038;keywords=NR2E3\">NR2E3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mutation-associated-retinal-degeneration\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u938c\u72b6\u8d64\u8840\u7403\u75c7<\/td>\n            <td><a href=\"https:\/\/genetics.qlife.jp\/diseases\/sickle-cell\">Sickle-Cell Disease, HBB l<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HBBl&#038;keywords=HBBl\">HBB l<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sickle-cell-disease-hbb\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7b2cIX\u56e0\u5b50\u6b20\u4e4f\u75c7\u3001X\u9023\u9396\u6027<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4649\">Factor IX Deficiency, X-Linked, F9<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=F9&#038;keywords=F9\">F9<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/factor-ix-deficiency-x-linked\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30c6\u30a4\u30b5\u30c3\u30af\u30b9\u75c5\u3001HEXA u<\/td>\n            <td><a href=\"https:\/\/jglobal.jst.go.jp\/detail?JGLOBAL_ID=200902180641734411\">Tay-Sachs Disease, HEXA u<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HEXA%E9%81%BA%E4%BC%9D%E5%AD%90&#038;keywords=HEXA%E9%81%BA%E4%BC%9D%E5%AD%90\">HEXA\u907a\u4f1d\u5b50<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/tay-sachs-disease-hexa-u\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u814e\u6027\u5c3f\u5d29\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5537\">Familial Nephrogenic Diabetes Insipidus (AQP2- related), AQP2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AQP2&#038;keywords=AQP2\">AQP2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-renal-urinary-stones\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4544#:~:text=%EF%BC%91%EF%BC%8E%E6%A6%82%E8%A6%81%E3%82%A6%E3%82%A3%E3%83%AB%E3%82%BD%E3%83%B3%E7%97%85%E3%81%AF,%E9%9A%9C%E5%AE%B3%E3%82%92%E6%9D%A5%E3%81%97%E3%81%86%E3%82%8B%E3%80%82\">Wilson Disease, ATP7B<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ATP7B&#038;keywords=ATP7B\">ATP7B<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/wilson-disease-atp7b\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7b4b\u578b\u7cd6\u539f\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4712\">Glycogen Storage Disease, Type 4, GBE1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GBE1&#038;keywords=GBE1\">GBE1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fascial-glycogenosis\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d8\u30eb\u30ea\u30c3\u30c4\u578b\u63a5\u5408\u578b\u8868\u76ae\u6c34\u75b1\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5339\">Junctional Epidermolysis Bullosa, Herlitz type, LAMC2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LAMC2&#038;keywords=LAMC2\">LAMC2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/junctional-epidermolysis-bullosa-herlitz-type-2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>PTPS\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/med.m-review.co.jp\/article\/detail\/J0014_1901_0165-0167\">6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency, PTS<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PTS&#038;keywords=PTS\">PTS<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ptps\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>1\u578b\u30e9\u30e1\u30e9\u9b5a\u9c57\u766c<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/139\">Lamellar Ichthyosis, Type 1, TGM1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TGM1&#038;keywords=TGM1\">TGM1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lamellar-ichthyosis-type-1-2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\uff08CNGB3\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/\">Achromatopsia (CNGB3-related), CNGB3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CNGB3&#038;keywords=CNGB3\">CNGB3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/achromatopsia-cnbg3-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u30d5\u30e9\u30f3\u30b9\u7cfb\u30ab\u30ca\u30c0\u4eba\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/428\">Leigh Syndrome, French-Canadian Type, LRPPRC<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LRPPRC&#038;keywords=LRPPRC\">LRPPRC<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leigh-syndrome-french-canadian-type-2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_07_104\/#:~:text=%E5%89%AF%E8%85%8E%E7%99%BD%E8%B3%AA%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC(adrenoleukodystrophy%3B%20ALD,(AMN)%E3%80%81%E6%88%90%E4%BA%BA%E3%81%A7%E6%80%A7%E6%A0%BC\">Adrenoleukodystrophy, X-Linked, ABCD1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ABCD1&#038;keywords=ABCD1\">ABCD1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/adrenoleukodystrophy\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>2A\u578b \u56db\u80a2\u5e2f\u72b6\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4523\">Limb-Girdle Muscular Dystrophy, Type 2A, CAPN3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CAPN3&#038;keywords=CAPN3\">CAPN3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2a-capn3\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4348\">Alport Syndrome (COL4A3-related), COL4A3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=COL4A3&#038;keywords=COL4A3\">COL4A3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alport-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30012\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4523\">Limb-Girdle Muscular Dystrophy, Type 2D, SGCA<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SGCA&#038;keywords=SGCA\">SGCA<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2d-sgca\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d3\u30bf\u30df\u30f3E\u6b20\u4e4f\u75c7\u306b\u4f34\u3046\u904b\u52d5\u5931\u8abf\u75c7<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/ur-dbms\/SyndromeDetail.php?recid=3175&#038;winid=1\">Ataxia with Vitamin E Deficiency, TTPA<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TTPA&#038;keywords=TTPA\">TTPA<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ataxia-associated-with-vitamin-e-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ea\u30dd\u30a4\u30c9\u526f\u814e\u904e\u5f62\u6210\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/1530\">Lipoid Adrenal Hyperplasia, STAR<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=STAR&#038;keywords=STAR\">STAR<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lipoid-adrenal-hyperplasia-star\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d0\u30c3\u30c6\u30f3\u75c5\uff08CLN3\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/medical-plus.bmrn.co.jp\/area\/ncl\/\">Batten Disease (CLN3-related), CLN3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CLN3&#038;keywords=CLN3\">CLN3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/batten-disease-cln3\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u4e2d\u9396\u30a2\u30b7\u30eb-CoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u4e4f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_03_045\/\">\u201cMedium Chain Acyl-CoA Dehydrogenase Deficiency, ACADM u\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ACADM&#038;keywords=ACADM\">ACADM u<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/medium-chain-acyl-coa-dehydrogenase-deficiency-acadm\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d6\u30eb\u30fc\u30e0\uff08Bloom\uff09\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/10_02_014\/\">Bloom Syndrome, BLM u<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BLM&#038;keywords=BLM\">BLM<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bloom-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u30fb\u30ed\u30a4\u30b3\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08PSAP\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_088\/\">Metachromatic Leukodystrophy (PSAP-related) PSAP<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PSAP&#038;keywords=PSAP\">PSAP<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/metachromatic-leukodystrophy-psap-related\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ab\u30eb\u30cb\u30c1\u30f3\u30d1\u30eb\u30df\u30c8\u30a4\u30eb\u57fa\u8ee2\u79fb\u9175II\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_03_042\/\">Carnitine Palmitoyltransferase II Deficiency, CPT2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CPT2&#038;keywords=CPT2\">CPT2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/carnitine-palmitoyltransferase-2-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u5c3f\u75c7\u30fb\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7 cblC\u578b<\/td>\n            <td><a href=\"https:\/\/myriad-com.translate.goog\/womens-health\/diseases\/methylmalonic-aciduria-and-homocystinuria-cblc-type\/?_x_tr_sl=en&#038;_x_tr_tl=ja&#038;_x_tr_hl=ja&#038;_x_tr_pto=sc\">Methylmalonic Aciduria and Homocystinuria, Type cblC, MMACHC<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MMACHC&#038;keywords=MMACHC\">MMACHC<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-aciduria-and-homocystinuria-type-cblc-2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8133\u8171\u9ec4\u8272\u816b\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4619\">Cerebrotendinous Xanthomatosis, CYP27A1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CYP27A1&#038;keywords=CYP27A1\">CYP27A1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pure-yellow-tumour-of-the-tendon\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5c0f\u773c\u7403\u75c7\uff0f\u7121\u773c\u7403\u75c7\uff08VSX2\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/747\">Microphthalmia\/Anophthalmia (VSX2-related), VSX2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=VSX2&#038;keywords=VSX2\">VSX2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/microphthalmia-anophthalmia\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6162\u6027\u8089\u82bd\u816b\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/254\">Chronic Granulomatous Disease, X-Linked, CYBB<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CYBB&#038;keywords=CYBB\">CYBB<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/chronic-granulomatous-disease\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f531\u6b20\u640d\u75c7\uff08NDUFS6\u95a2\u9023\uff09,<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_04_054\/\">Mitochondrial Complex 1 Deficiency (NDUFS6-related), NDUFS6<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NDUFS6&#038;keywords=NDUFS6\">NDUFS6<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-1-deficiency-ndufs6-related-ndufs6\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30de\u30ed\u30f3\u9178\u5c3f\u75c7\u3068\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u5c3f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5449\">Combined Malonic and Methylmalonic Aciduria, <\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ACSF3&#038;keywords=ACSF3\">ACSF3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/malonic-aciduria-and-methylmalonic-aciduria\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\uff08\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9 III\u578b\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Mucolipidosis III Gamma, GNPTG<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GNPTG&#038;keywords=GNPTG\">GNPTG<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucolipidosis-iii-gamma-gnptg\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e0\u30b3\u591a\u7cd6\u75c7IIIB\u578b\uff3bSanfilippo B\uff3d\u3001<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4063\">\u201cMucopolysaccharidosis, Type IIIB [Sanfilippo B], NAGLU\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NAGLU&#038;keywords=NAGLU\">NAGLU<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-type-iiib-sanfilippo-b-naglu\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>PROP1\u95a2\u9023\u8907\u5408\u4e0b\u5782\u4f53\u30db\u30eb\u30e2\u30f3\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/PROP1.htm\">Combined Pituitary Hormone Deficiency 2, PROP1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PROP1&#038;keywords=PROP1\">PROP1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/prop1-related-combined-pituitary-hormone-deficiency\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\uff08\u30e0\u30b3\u591a\u7cd6\u75c7IX\u578b\u3001\u30d2\u30a2\u30eb\u30ed\u30cb\u30c0\u30fc\u30bc\u6b20\u640d\u75c7\uff09<\/td>\n            <td><a href=\"https:\/\/www-omim-org.translate.goog\/entry\/601492?_x_tr_sl=en&#038;_x_tr_tl=ja&#038;_x_tr_hl=ja&#038;_x_tr_pto=sc\">Mucopolysaccharidosis, Type IX, HYAL1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HYAL1&#038;keywords=HYAL1\">HYAL1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-type-ix-hyal1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027N-\u7d50\u5408\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u7d4c\u8def\u7570\u5e38\u75c7<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/n_cdg.htm\">Congenital Disorder of Glycosylation Type 1C, ALG6<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ALG6&#038;keywords=ALG6\">ALG6<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-n-linked-glycosylation-pathway-disorders\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/3963\">\u201cCongenital Myasthenic Syndrome (CHRNE-related), CHRNE\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CHRNE&#038;keywords=CHRNE\">CHRNE<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-amyotrophic-syndrome-2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_101\/\">Neuronal Ceroid Lipofuscinosis (CLN6-related), CLN6<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CLN6&#038;keywords=CLN6\">CLN6<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-cln6-related-cln6\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/3963\">\u201cCongenital Myasthenic Syndrome (CHRNE-related), CHRNE\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CHRNE&#038;keywords=CHRNE\">CHRNE<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-amyotrophic-syndrome-2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9178\u6027\u30b9\u30d5\u30a3\u30f3\u30b4\u30df\u30a8\u30ea\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/asmd.htm\">Niemann-Pick Disease, Types A\/B, SMPD1 u<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SMPD1&#038;keywords=SMPD1\">SMPD1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/niemann-pick-disease-types-a-b-smpd1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/2310\">Congenital Neutropenia (VPS45-related), VPS45<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=VPS45&#038;keywords=VPS45\">VPS45<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-hypospadias\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/335\">Pontocerebellar Hypoplasia, RARS2-related, RARS2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RARS2&#038;keywords=RARS2\">RARS2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-rars2-related-rars2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>CRB1\u95a2\u9023\u306e\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4798\">CRB1-related Retinal Dystrophies, CRB1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CRB1&#038;keywords=CRB1\">CRB1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/crb1-related-retinal-dystrophy\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/03_05_007\/\">Primary Ciliary Dyskinesia, DNAI2-related, DNAI2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DNAI2&#038;keywords=DNAI2\">DNAI2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-ciliary-dyskinesia-dnai2-related-dnai2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u96e3\u8074\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u602777<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/\">Deafness, Autosomal Recessive 77, LOXHD1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LOXHD1&#038;keywords=LOXHD1\">LOXHD1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/deafness-autosomal-recessive-77\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d4\u30eb\u30d3\u30f3\u9178\u8131\u6c34\u7d20\u9175\u7d20\u8907\u5408\u4f53\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_04_050\/\">Pyruvate Dehydrogenase Deficiency, X-Linked, PDHA1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PDHA1&#038;keywords=PDHA1\">PDHA1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pyruvate-dehydrogenase-deficiency-x-linked-pdha1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a8\u30fc\u30e9\u30b9\u30fb\u30c0\u30f3\u30ed\u30b9\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_13_135\/\">Ehlers-Danlos Syndrome, Type VIIC, ADAMTS<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ADAMTS&#038;keywords=ADAMTS\">ADAMTS<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ehlers-danlos-syndrome\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7<\/td>\n            <td><a href=\"https:\/\/nanbyodata.jp\/disease\/NANDO:1200431\">Retinitis Pigmentosa 28, FAM161A<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=FAM161A&#038;keywords=FAM161A\">FAM161A<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-28-fam161a\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a8\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8133\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4860\">Ethylmalonic Encephalopathy, ETHE1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ETHE1&#038;keywords=ETHE1\">ETHE1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ethylmalonic-acid-encephalopathy\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u80a2\u6839\u578b\u70b9\u72b6\u8edf\u9aa8\u7570\u5f62\u6210\u75c7III\u578b (RCDP3)<\/td>\n            <td><a href=\"https:\/\/minerva-clinic.or.jp\/genetictesting\/gene-list\/a\/agps\/\">Rhizomelic Chondrodysplasia Punctata, Type 3, AGPS<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AGPS&#038;keywords=AGPS\">AGPS<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/rhizomelic-chondrodysplasia-punctata-type-3-agps\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7b2cV\u56e0\u5b50\u6b20\u4e4f\u75c7<\/td>\n            <td><a href=\"https:\/\/jsth.medical-words.jp\/?post_type=words&#038;p=281\">Factor V Leiden Thrombophilia, F5<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=F5&#038;keywords=F5\">F5<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/factor-v-leiden-thrombophilia-f5\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b5\u30f3\u30c9\u30db\u30d5\u75c5<\/td>\n            <td><a href=\"https:\/\/www.msdmanuals.com\/ja-jp\/%E3%83%9B%E3%83%BC%E3%83%A0\/23-%E5%B0%8F%E5%85%90%E3%81%AE%E5%81%A5%E5%BA%B7%E4%B8%8A%E3%81%AE%E5%95%8F%E9%A1%8C\/%E9%81%BA%E4%BC%9D%E6%80%A7%E4%BB%A3%E8%AC%9D%E7%96%BE%E6%82%A3\/%E3%83%86%E3%82%A4-%E3%82%B5%E3%83%83%E3%82%AF%E3%82%B9%E7%97%85%E3%81%8A%E3%82%88%E3%81%B3%E3%82%B5%E3%83%B3%E3%83%89%E3%83%9B%E3%83%95%E7%97%85\">Sandhoff Disease, HEXB<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HEXB&#038;keywords=HEXB\">HEXB<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sandhoff-disease-hexb\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5bb6\u65cf\u6027\u9ad8\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/65\">Familial Hypercholesterolemia (LDLR-related), LDLR<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LDLR&#038;keywords=LDLR\">LDLR<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/familial-hypercholesterolemia-ldlr-related-ldlr\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9ad8\u30c1\u30ed\u30b7\u30f3\u8840\u75c7\uff11\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4691\">Tyrosinemia, Type 1, FAH<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=FAH&#038;keywords=FAH\">FAH<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/tyrosinemia-type-1-fah\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ac\u30e9\u30af\u30c8\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4829\">\u201cGalactokinase Deficiency [Galactosemia, Type II], GALK1\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GALK1&#038;keywords=GALK1\">GALK1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/galactokinase-deficiency-galactosemia-type-ii-galk1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4625\">Usher Syndrome, Type 2A, USH2A<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=USH2A&#038;keywords=USH2A\">USH2A<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/usher-syndrome-type-2a-ush2a\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b0\u30eb\u30bf\u30eb\u9178\u8840\u75c7\uff11\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4831\">Glutaric Acidemia, Type 1, GCDH<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GCDH&#038;keywords=GCDH\">GCDH<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glutaric-acidemia-type-1-gcdh\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7db2\u819c\u5206\u96e2\u75c7<\/td>\n            <td><a href=\"https:\/\/minerva-clinic.or.jp\/genetictesting\/gene-list\/r\/rs1\/\">Juvenile Retinoschisis, X-Linked, RS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RS1&#038;keywords=RS1\">RS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/juvenile-retinoschisis-x-linked-rs1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u975e\u30b1\u30c8\u30fc\u30b7\u30b9\u578b\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5440\">Glycine Encephalopathy (AMT-related), AMT<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AMT&#038;keywords=AMT\">AMT<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycine-encephalopathy-amt-related-amt\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4524\">Limb-Girdle Muscular Dystrophy, Type 2B, DYSF<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DYSF&#038;keywords=DYSF\">DYSF<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2b-dysf\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7cd6\u539f\u75c5II\u578b\uff08\u30dd\u30f3\u307a\u75c5\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4712\">\u201cGlycogen Storage Disease, Type 2 [Pompe Disease], GAA\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GAA&#038;keywords=GAA\">GAA<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-type-2-pompe-disease-gaa\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u76ae\u8cea\u4e0b\u56a2\u80de\u3092\u4f34\u3046\u5de8\u982d\u6027\u767d\u8cea\u8133\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/search\/group\">Megalencephalic Leukoencephalopathy with Subcortical Cysts, MLC1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MLC1&#038;keywords=MLC1\">MLC1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/megalencephalic-leukoencephalopathy-with-subcortical-cysts-mlc1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7cd6\u539f\u75c5V\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4711\">\u201cGlycogen Storage Disease, Type 5 [McArdle Disease], PYGM\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PYGM&#038;keywords=PYGM\">PYGM<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-type-5-mcardle-disease-pygm\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f531\u6b20\u640d\u75c7\uff08ACAD9\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/335\">Mitochondrial Complex 1 Deficiency (ACAD9-related), ACAD9<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ACAD9&#038;keywords=ACAD9\">ACAD9<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-1-deficiency-acad9-related-acad9\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u82e5\u5e74\u6027\u30d8\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b9<\/td>\n            <td><a href=\"https:\/\/www.msdmanuals.com\/ja-jp\/%E3%83%9B%E3%83%BC%E3%83%A0\/13-%E8%A1%80%E6%B6%B2%E3%81%AE%E7%97%85%E6%B0%97\/%E9%89%84%E9%81%8E%E5%89%B0%E7%97%87\/%E3%83%98%E3%83%A2%E3%82%AF%E3%83%AD%E3%83%9E%E3%83%88%E3%83%BC%E3%82%B7%E3%82%B9\">Hemochromatosis, Type 2A, HFE2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HJV\">HFE2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hemochromatosis-type-2a-hfe2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u30df\u30aa\u30d1\u30c1\u30fc\u3068\u9244\u82bd\u7403\u6027\u8ca7\u8840\uff08MLASA1\uff09\u3001PUS1<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/335\">Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1), PUS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PUS1&#038;keywords=PUS1\">PUS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-myopathy-and-sideroblastic-anemia-mlasa1-pus1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d8\u30eb\u30de\u30f3\u30b9\u30ad\u30fc\u30fb\u30d1\u30c9\u30e9\u30c3\u30af\u75c7\u5019\u7fa41<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/hps.htm\">Hermansky-Pudlak Syndrome (HPS1-related), HPS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HPS1&#038;keywords=HPS1\">HPS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hermansky-pudlak-syndrome-hps1-related-hps1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9\uff08IV\u578b\uff09<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/ml4.htm\">Mucolipidosis, Type IV, MCOLN1 u<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MCOLN1&#038;keywords=MCOLN1\">MCOLN1 u<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucolipidosis-type-iv-mcoln1-u\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_01_008\/#:~:text=%E3%83%9B%E3%83%A2%E3%82%B7%E3%82%B9%E3%83%81%E3%83%B3%E5%B0%BF%E7%97%87%E3%81%AF%E3%83%A1%E3%83%81%E3%82%AA%E3%83%8B%E3%83%B3,%E7%96%BE%E6%82%A3%E3%81%A8%E3%81%AA%E3%81%A3%E3%81%A6%E3%81%84%E3%82%8B%E3%80%82\">Homocystinuria (CBS-related), CBS<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CBS&#038;keywords=CBS\">CBS<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/homocystinuria-cbs-related-cbs\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>N-\u30a2\u30bb\u30c1\u30eb\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u30b7\u30f3\u30bf\u30fc\u30bc\u6b20\u4e4f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_01_011\/\">N-acetylglutamate Synthase Deficiency, NAGS<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NAGS&#038;keywords=NAGS\">NAGS<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/n-acetylglutamate-synthase-deficiency-nags\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7121\u6c57\u6027\u5916\u80da\u8449\u5f62\u6210\u4e0d\u5168\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/html\/detail\/14_08_013.html\">Hypohidrotic Ectodermal Dysplasia, X-Linked, EDA<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=EDA&#038;keywords=EDA\">EDA<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hypohidrotic-ectodermal-dysplasia-x-linked-eda\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5 C1\/D\u578b<\/td>\n            <td><a href=\"https:\/\/www.msdmanuals.com\/ja-jp\/%E3%83%9B%E3%83%BC%E3%83%A0\/23-%E5%B0%8F%E5%85%90%E3%81%AE%E5%81%A5%E5%BA%B7%E4%B8%8A%E3%81%AE%E5%95%8F%E9%A1%8C\/%E9%81%BA%E4%BC%9D%E6%80%A7%E4%BB%A3%E8%AC%9D%E7%96%BE%E6%82%A3\/%E3%83%8B%E3%83%BC%E3%83%9E%E3%83%B3-%E3%83%94%E3%83%83%E3%82%AF%E7%97%85\">Niemann-Pick Disease, Type C1\/D, NPC1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=%20NPC1&#038;keywords=%20NPC1\">NPC1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/niemann-pick-disease-type-c1-d-npc1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30af\u30e9\u30c3\u30d9\u75c5<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_092\/\">Krabbe Disease, GALC<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GALC&#038;keywords=GALC\">GALC<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/krabbe-disease-galc\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u975e\u30b7\u30f3\u30c9\u30ed\u30fc\u30e0\u6027\u96e3\u8074\uff08GJB2\u95a2\u9023\u3001GJB6\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/\">Non-Syndromic Hearing Loss (GJB2-related, GJB6-related), GJB2, GJB6<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GJB2&#038;keywords=GJB2\">GJB2\u3001GJB6<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/deafness-and-hereditary-hearing-loss-overview\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4660\">Leber Congenital Amaurosis, Type CEP290, CEP290<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CEP290&#038;keywords=CEP290\">CEP290<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leber-congenital-amaurosis-type-cep290\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30aa\u30eb\u30cb\u30c1\u30f3\u30a2\u30df\u30ce\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u6b20\u4e4f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/841\">Ornithine Aminotransferase Deficiency, OAT<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=OAT&#038;keywords=OAT\">OAT<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ornithine-aminotransferase-deficiency-oat\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4522\">Limb-Girdle Muscular Dystrophy, Type 2C, SGCG<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SGCG&#038;keywords=SGCG\">SGCG<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2c-sgcg\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d5\u30a7\u30cb\u30eb\u30b1\u30c8\u30f3\u5c3f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4747\">Phenylketonurea, PAH u<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PAH&#038;keywords=PAH\">PAH u<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/phenylketonurea-pah\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b8\u30d2\u30c9\u30ed\u30ea\u30dd\u30a2\u30df\u30c9\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/dihydrolipoamide-dehydrogenase-deficiency\/\">Lipoamide Dehydrogenase Deficiency [Maple Syrup Urine Disease, Type 3], DLD<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DLD&#038;keywords=DLD\">DLD<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lipoamide-dehydrogenase-deficiency-maple-syrup-srine-disease-type-3-dld\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u767a\u6027\u9ad8\u30b7\u30e5\u30a6\u9178\u5c3f\u75c7\u2160\u578b<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_02_035\/\">Primary Hyperoxaluria, Type 1, AGXT<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AGXT&#038;keywords=AGXT\">AGXT<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-hyperoxaluria-type-1-agxt\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9577\u93963-\u30d2\u30c9\u30ed\u30ad\u30b7\u30a2\u30b7\u30ebCoA\u8131\u6c34\u7d20\u9175\u7d20\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency\/#:~:text=%E6%A6%82%E8%A6%81,%E8%84%82%E8%82%AA%E9%85%B8%E9%85%B8%E5%8C%96%E7%95%B0%E5%B8%B8%E7%97%87)%E3%81%A7%E3%81%99%E3%80%82\">Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, HADHA<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HADHA&#038;keywords=HADHA\">HADHA<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency-hadha\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u814e\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u96e3\u8074\uff08ATP6V1B1-\u95a2\u9023\uff09\u3001ATP6V1B<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/3277\">Renal Tubular Acidosis and Deafness (ATP6V1B1- related), ATP6V1B<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ATP6V1B&#038;keywords=ATP6V1B\">ATP6V1B<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/renal-tubular-acidosis-and-deafness-atp6v1b1-related-atp6v1b1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u95a2\u9023\u75be\u60a3<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4552\">Meckel-Gruber Syndrome, Type 1, MKS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MKS1&#038;keywords=MKS1\">MKS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/meckel-gruber-syndrome-type-1-mks1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>X\u9023\u9396\u6027\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/196\">Retinitis Pigmentosa, X-linked, RPGR<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RPGR&#038;keywords=RPGR\">RPGR<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-x-linked-rpgr\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_088\/#:~:text=%E7%95%B0%E6%9F%93%E6%80%A7%E7%99%BD%E8%B3%AA%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC%E3%81%AF%E3%80%81%E3%82%A2%E3%83%AA%E3%83%AB%E3%82%B9%E3%83%AB%E3%83%95%E3%82%A1%E3%82%BF%E3%83%BC%E3%82%BCA%E3%81%AE,%E5%9E%8B%E3%81%AB%E5%88%86%E9%A1%9E%E3%81%95%E3%82%8C%E3%82%8B%E3%80%82\">Metachromatic Leukodystrophy (ARSA-related), ARSA<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ARSA&#038;keywords=ARSA\">ARSA<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/metachromatic-leukodystrophy-arsa-related-arsa\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.jsum.or.jp\/\">Roberts Syndrome, ESCO2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ESCO2&#038;keywords=ESCO2\">ESCO2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/roberts-syndrome-esco2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4859\">Methylmalonic Aciduria (MMAB-related), MMAB<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MMAB&#038;keywords=MMAB\">MMAB<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-aciduria-mmab-related-mmab\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b7\u30e0\u30b1\u514d\u75ab\u6027\u9aa8\u5f62\u6210\u4e0d\u5168<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/old\/schimke.htm\">Schimke Immunoosseous Dysplasia, SMARCAL1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SMARCAL1&#038;keywords=SMARCAL1\">SMARCAL1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/schimke-immunoosseous-dysplasia-smarcal1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7MUT0\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4859\">Methylmalonic Aciduria, Type mut(0), MMUT<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MMUT&#038;keywords=MMUT\">MMUT<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-aciduria-type-mut0-mmut\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\u3001DHCR7 u<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/html\/detail\/13_01_028.html\">Smith-Lemli-Opitz Syndrome, DHCR7 u<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DHCR7&#038;keywords=DHCR7\">DHCR7 u<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/smith-lemli-opitz-syndrome-dhcr7\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53 I \u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/medlineplus-gov.translate.goog\/genetics\/condition\/mitochondrial-complex-i-deficiency\/?_x_tr_sl=en&#038;_x_tr_tl=ja&#038;_x_tr_hl=ja&#038;_x_tr_pto=sc\">Mitochondrial Complex 1 Deficiency (NDUFAF5- related), NDUFAF5<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NDUFAF5&#038;keywords=NDUFAF5\">NDUFAF5<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-1-deficiency-ndufaf5-related-ndufaf5\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>Stuve-Wiedemann\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/3958\">Stuve-Wiedemann Syndrome, LIFR<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HSPG2&#038;keywords=HSPG2\">HSPG2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/stuve-wiedemann-syndrome-lifr\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9\u2162\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Mucolipidosis II\/III, GNPTAB<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GNPTAB&#038;keywords=GNPTAB\">GNPTAB<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucolipidosis-ii-iii-gnptab\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa4\uff081C\u578b\uff09USH1C<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/ur-dbms\/SyndromeDetail.php?recid=3158&#038;winid=1\">Usher Syndrome, Type 1C, USH1C<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=USH1C&#038;keywords=USH1C\">USH1C<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/usher-syndrome-type-1c-ush1c\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u795e\u7d4c\u80c3\u8178\u8133\u75c7\u75be\u60a3<\/td>\n            <td><a href=\"https:\/\/medlineplus-gov.translate.goog\/genetics\/condition\/mitochondrial-neurogastrointestinal-encephalopathy-disease\/?_x_tr_sl=en&#038;_x_tr_tl=ja&#038;_x_tr_hl=ja&#038;_x_tr_pto=sc\">\u201cMyoneurogastrointestinal Encephalopathy (MNGIE), TYMP\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TYMP&#038;keywords=TYMP\">TYMP<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/myoneurogastrointestinal-encephalopathy-mngie-tymp\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30bc\u30eb\u30a6\u30a3\u30ac\u30fc\u30fb\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u3001\uff08PEX6\u95a2\u9023\uff09\u3001PEX6<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/UR-DBMS\/SyndromeDetail.php?recid=8221&#038;winid=1\">Zellweger Spectrum Disorders, (PEX6-related), PEX6<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX6&#038;keywords=PEX6\">PEX6<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-spectrum-disorders-pex6-related-pex6\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ca\u30d0\u30db\u795e\u7d4c\u809d\u75c7\uff3bMPV17\u95a2\u9023\u809d\u7d30\u80de\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u6b20\u5931\u75c7\u5019\u7fa4\uff3d<\/td>\n            <td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome\/\">Navajo Neurohepatopathy [MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome], MPV17<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MPV17&#038;keywords=MPV17\">MPV17<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/navajo-neurohepatopathy-mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome-mpv17\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30bc\u30eb\u30a6\u30a3\u30ac\u30fc\u30fb\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08PEX10\u95a2\u9023\uff09\u3001PEX10<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/UR-DBMS\/SyndromeDetail.php?recid=8221&#038;winid=1\">Zellweger Spectrum Disorders (PEX10-related), PEX10<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX10&#038;keywords=PEX10\">PEX10<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-spectrum-disorders-pex10-related-pex10\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>CLN5 \u75be\u60a3<\/td>\n            <td><a href=\"https:\/\/medlineplus-gov.translate.goog\/genetics\/condition\/cln5-disease\/?_x_tr_sl=en&#038;_x_tr_tl=ja&#038;_x_tr_hl=ja&#038;_x_tr_pto=sc\">Neuronal Ceroid Lipofuscinosis (CLN5-related), CLN5<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CLN5&#038;keywords=CLN5\">CLN5<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-cln5-related-cln5\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7<\/td>\n            <td><a href=\"https:\/\/www.jstage.jst.go.jp\/article\/ojjscn\/53\/4\/53_251\/_pdf\/-char\/ja\">Neuronal Ceroid Lipofuscinosis (PPT1-related), PPT1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PPT1&#038;keywords=PPT1\">PPT1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-ppt1-related-ppt1\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5\u3001C2\u578b\u3001NPC2\u578b<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/UR-DBMS\/SyndromeDetail.php?recid=4621&#038;winid=1\">Niemann-Pick Disease, Type C2, NPC2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NPC2&#038;keywords=NPC2\">NPC2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/niemann-pick-disease-type-c2-npc2\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30aa\u30c9\u30f3\u30c8\u30fb\u30aa\u30cb\u30fc\u30b3\u30fb\u76ae\u819a\u7570\u5f62\u6210\u75c7\u30fb\u201d\u30aa\u30c9\u30f3\u30c8\u30fb\u30aa\u30cb\u30fc\u30b3\u30fb\u76ae\u819a\u7570\u5f62\u6210\u75c7\u3001\u30b7\u30e7\u30d7\u30d5\u30fb\u30b7\u30e5\u30eb\u30c4\u30fb\u30d1\u30b5\u30fc\u30b8\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4456\">\u201cOdonto-Onycho-Dermal Dysplasia \/ Schopf-Schulz- Passarge Syndrome, WNT10A\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=WNT10A&#038;keywords=WNT10A\">WNT10A<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/odonto-onycho-dermal-dysplasia-schopf-schulz-passarge-syndrome-wnt10a\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30aa\u30eb\u30cb\u30c1\u30f3\u30c8\u30e9\u30f3\u30b9\u30ab\u30eb\u30d0\u30df\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/841\">Ornithine Transcarbamylase Deficiency, OTC<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=OTC&#038;keywords=OTC\">OTC<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ornithine-transcarbamylase-deficiency-otc\/\">\u3053\u306e\u75be\u60a3\u306e\u8a73\u7d30\u306f\u3053\u3061\u3089<\/a><\/td>\n        <\/tr>\n\n    <\/table>\n<\/div>\n\n<style>\n.disease_list {\n    font-family: arial, sans-serif;\n    border-collapse: collapse;\n    width: 100%;\n    margin-bottom: 40px;\n}\n.disease_list td, .disease_list th {\n    border: 1px solid #dddddd;\n    text-align: left;\n    padding: 8px;\n    line-height: 1.2;\n}\n.disease_list tr:nth-child(even) {\n    background-color: rgba(242, 168, 195, 0.5);\n}\n\n\n@media screen and (max-width: 600px){\n    .disease_list td, .disease_list th {\n        width: 20%;\n    }\n}\n<\/style>\n\n\n\n<div class=\"section-separator\">\n<h2 class=\"wp-block-heading\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306e\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3068\u306f<\/h2>\n<p>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u306f\u3001\u51fa\u751f\u524d\u306b\u91cd\u7be4\u306a\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u3053\u306e\u691c\u67fb\u3067\u306f\u3001\u6bcd\u89aa\u3068\u7236\u89aa\u306e\u982c\u304b\u3089\u63a1\u53d6\u3057\u305f\u7c98\u819c\u7d30\u80de\u304b\u3089\u907a\u4f1d\u5b50\u3092\u62bd\u51fa\u30fb\u89e3\u6790\u3057\u3001\u6bcd\u89aa\u3068\u7236\u89aa\u306e\u907a\u4f1d\u5b50\u60c5\u5831\u3092\u57fa\u306b\u80ce\u5150\u304c\u91cd\u7be4\u306a\u907a\u4f1d\u75be\u60a3\u3092\u6301\u3064\u30ea\u30b9\u30af\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u691c\u51fa\u3057\u307e\u3059\u3002\u3053\u308c\u307e\u3067\u8abf\u3079\u305f\u9650\u308a\u3067\u306f\u3001\u7d0495\uff05\u306e\u4eba\u304c\u4e00\u3064\u4ee5\u4e0a\u306e\u6f5c\u6027\u907a\u4f1d\u5b50\u75be\u60a3\u3092\u6709\u3057\u3066\u307e\u3057\u305f\u3002<\/p>\n<p>\u305f\u3068\u3048\u30704\u4e07\u4eba\u306b1\u4eba\u304c\u767a\u75c7\u3059\u308b\u3088\u3046\u306a\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3067\u3082\u3001\u30ad\u30e3\u30ea\u30a2\uff08\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u3092\u6301\u3064\u304c\u767a\u75c7\u3057\u3066\u3044\u306a\u3044\u4eba\uff09\u306f100\u4eba\u306b1\u4eba\u3044\u307e\u3059\u3002\u3053\u306e\u691c\u67fb\u306f\u3001\u6bcd\u89aa\u3068\u7236\u89aa\u304c\u30ad\u30e3\u30ea\u30a2\u3067\u3042\u308b\u304b\u3092\u7279\u5b9a\u3057\u3001\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u306e\u30ea\u30b9\u30af\u3092\u4e88\u6e2c\u3059\u308b\u305f\u3081\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n<p>\u30ad\u30e3\u30ea\u30a2\u907a\u4f1d\u5b50\u3092\u7279\u5b9a\u3057\u3001\u305d\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u306e\u95a2\u9023\u3092\u7591\u3046\u3053\u3068\u304c\u3067\u304d\u308b\u691c\u67fb\u306f\u3001\u6709\u7528\u306a\u691c\u67fb\u3068\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u306f\u8003\u3048\u3066\u304a\u308a\u307e\u3059\u3002<\/p>\n<p>\u3053\u306e\u691c\u67fb\u306e\u7279\u5fb4\u306f<span class=\"underline\" style=\"text-decoration: 5px underline #ffff66; text-underline-offset: -1px; font-weight: 700; color: #e54c84;\">\u3053\u308c\u307e\u3067\u907a\u4f1d\u5b50\u7570\u5e38\u3068\u3055\u308c\u3066\u3044\u308b\u907a\u4f1d\u5b50\u306e\u7d44\u307f\u5408\u308f\u305b\u3092\u5168\u3066\u691c\u51fa\u3057\u3066\u3001\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u672c\u5f53\u306b\u75c5\u539f\u6027\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u5224\u65ad\u3059\u308b<\/span>\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002\n  <\/p>\n<p>\u907a\u4f1d\u5b50\u306f\u500b\u4eba\u500b\u4eba\u3067\u7570\u306a\u308a\u307e\u3059\u3002\u305d\u308c\u306f\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u306b\u304a\u3044\u3066\u3082\u3088\u304f\u307f\u3089\u308c\u308b\u3053\u3068\u3067\u3042\u308a\u3001\u305d\u306e\u591a\u69d8\u6027\u306b\u3088\u3063\u3066\u4eba\u306f\u4e00\u4eba\u4e00\u4eba\u7570\u306a\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u306a\u304c\u3089\u3001\u305d\u306e\u5909\u5316\u306e\u4e2d\u3067\u75c5\u539f\u6027\u3092\u6301\u3064\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n<p>\u907a\u4f1d\u5b50\u306e\u7d44\u307f\u5408\u308f\u305b\u306f\u4e16\u754c\u4e2d\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u5171\u6709\u3055\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3092\u691c\u7d22\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u3001\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u75c5\u539f\u6027\u3092\u6301\u3064\u304b\u3069\u3046\u304b\u3092\u8abf\u3079\u307e\u3059\u3002<\/p>\n<p>\u6bcd\u89aa\u3068\u7236\u89aa\u304c\u540c\u3058\u90e8\u4f4d\u306b\u304a\u3044\u3066\u75c5\u539f\u6027\u3092\u6301\u3064\u6642\u3001\u9ad8\u983b\u5ea6\u3067\u5b50\u4f9b\u306b\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3001\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3092\u898b\u308b\u3060\u3051\u3067\u306f\u610f\u5473\u304c\u3042\u308a\u307e\u305b\u3093\u3002<span class=\"underline\" style=\"text-decoration: 5px underline #ffff66; text-underline-offset: -1px; color: #e54c84;\">\u305d\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u672c\u5f53\u306b\u7570\u5e38\u306a\u306e\u304b\u3092\u5224\u65ad\uff08\u30a2\u30ce\u30c6\u30fc\u30b7\u30e7\u30f3\uff09\u3059\u308b\u3053\u3068\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/span>\n<\/div>\n\n\n\n<p>\u4ee5\u4e0b\u306b\u30a2\u30e1\u30ea\u30ab\u3067\u3001\u7c73\u56fd\u7523\u79d1\u5a66\u4eba\u79d1\u5b66\u4f1a \uff08American College of Obstetricians and Gynecologists: ACOG\uff09\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u63d0\u8a00\u66f8\u3092\u4f5c\u3063\u3066\u3044\u307e\u3059\u3002\u5c11\u306a\u304f\u3066\u3082\u3059\u3079\u3066\u306e\u598a\u5a66\u306b\u3053\u306e\u3088\u3046\u306a\u691c\u67fb\u304c\u3042\u308b\u60c5\u5831\u304c\u63d0\u4f9b\u3055\u308c\u308b\u3079\u304d\u3067\u3042\u308b\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002\u3000<\/p>\n\n\n\n<p>ACOG\u63d0\u8a00 \uff08691\u53f7\uff0921\uff09\uff08\u6982\u8981\u629c\u7c8b\uff09<\/p>\n\n\n\n<p>\u30fb<mark style=\"background-color:rgba(0, 0, 0, 0)\" class=\"has-inline-color has-vivid-red-color\">\u3059\u3079\u3066\u306e\u598a\u5a66\u306b\u5bfe\u3057\u3066\u4fdd\u56e0\u8005\u691c\u67fb \uff08genetic carrier screening\uff09 \u306e\u60c5\u5831\u304c\u63d0\u4f9b\u3055\u308c\u308b\u3079\u304d\u3067\u3042\u308b\u3002<\/mark>\u60a3\u8005 \uff08patient\uff09\u306f\u3001\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u5f8c\u306b\u691c\u67fb\u3092\u62d2\u5426\u3059\u308b\u3053\u3068\u3082\u3067\u304d\u308b\u3002<br>\u30fb\u4fdd\u56e0\u8005\u691c\u67fb\u3068\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306f\u598a\u5a20\u524d\u306b\u884c\u3046\u306e\u304c\u7406\u60f3\u7684\u3067\u3042\u308b\u3002<br>\u30fb\u4fdd\u56e0\u8005\uff08carrier\uff09\u3067\u3042\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u305f\u5834\u5408\u3001\u30d1\u30fc\u30c8\u30ca\u30fc\u3082\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u305f\u5f8c\u3067\u691c\u67fb\u3092\u63d0\u4f9b\u3055\u308c\u308b\u3079\u304d\u3067\u3042\u308b\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u610f\u601d\u6c7a\u5b9a\u307e\u3067\u306e\u6642\u9593\u304c\u9650\u3089\u308c\u3066\u3044\u308b\u5834\u5408\u3001\u60a3\u8005\u3068\u30d1\u30fc\u30c8\u30ca\u30fc\u304c\u540c\u6642\u306b\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u3092\u63a8\u5968\u3059\u308b\u3002<br>\u30fb\u30d1\u30fc\u30c8\u30ca\u30fc\u306e\u4e21\u65b9\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3001\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u63d0\u4f9b\u3055\u308c\u308b\u3079\u304d\u3067\u3042\u308b\u3002\u75be\u60a3\u3092\u3082\u3064\u5b50\u3069\u3082\u306e\u30ea\u30b9\u30af\u3092\u6e1b\u3089\u3059\u305f\u3081\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3084\u751f\u6b96\u6280\u8853\u304c\u691c\u8a0e\u3055\u308c\u308b\u3079\u304d\u3067\u3042\u308b\u3002<br>\u30fb\u4fdd\u56e0\u8005\u3067\u3042\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u305f\u5834\u5408\u3001\u89aa\u65cf\u306b\u3082\u540c\u3058\u5909\u7570\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u30ea\u30b9\u30af\u3068\u4fdd\u56e0\u8005\u691c\u67fb\u306e\u5229\u7528\u53ef\u80fd\u6027\u3092\u60a3\u8005\u304b\u3089\u4f1d\u3048\u308b\u3088\u3046\u5968\u52b1\u3055\u308c\u308b\u3079\u304d\u3067\u3042\u308b\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/obgyn\/\">\u7523\u5a66\u4eba\u79d1<\/a>\u533b\u3084\u533b\u7642\u63d0\u4f9b\u8005\u306f\u3053\u306e\u60c5\u5831\u3092\u60a3\u8005\u306e\u8a31\u53ef\u306a\u304f\u958b\u793a\u3057\u3066\u306f\u306a\u3089\u306a\u3044\u3002<br>\u30fb\u60a3\u8005\u306e\u5bb6\u65cf\u6b74\u3001\u53ef\u80fd\u3067\u3042\u308c\u3070\u30d1\u30fc\u30c8\u30ca\u30fc\u306e\u5148\u5929\u7684\u30ea\u30b9\u30af\u3092\u5165\u624b\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3042\u308b\u3002\u5bb6\u65cf\u6b74\u306b\u306f\u5bb6\u65cf\u306e\u6c11\u65cf\u7684\u80cc\u666f\u3084\u8840\u7e01\u95a2\u4fc2\u3092\u542b\u3081\u308b\u3079\u304d\u3067\u3042\u308b\u3002\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u5834\u5408\u3001\u7279\u5b9a\u306e\u75be\u60a3\u306b\u95a2\u3059\u308b\u691c\u67fb\u304c\u63d0\u4f9b\u3055\u308c\u308b\u3079\u304d\u3067\u3042\u308a\u3001\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u3088\u308b\u5229\u76ca\u304c\u5f97\u3089\u308c\u308b\u5834\u5408\u304c\u3042\u308b\u3002<br>\u30fb\u7279\u5b9a\u306e\u75be\u60a3\u3092\u5bfe\u8c61\u306b\u3057\u305f\u4fdd\u56e0\u8005\u691c\u67fb\u306f\u305d\u306e\u4eba\u306e\u751f\u6daf\u306b\u4e00\u5ea6\u3060\u3051\u884c\u308f\u308c\u308b\u3079\u304d\u3067\u3001\u7d50\u679c\u306f\u60a3\u8005\u306e\u5065\u5eb7\u8a18\u9332\u306b\u4fdd\u5b58\u3055\u308c\u308b\u3079\u304d\u3067\u3042\u308b\u3002\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306e\u9032\u6b69\u306f\u8457\u3057\u304f\u3001\u8ffd\u52a0\u306e\u5909\u7570\u304c\u65b0\u305f\u306a\u691c\u67fb\u9805\u76ee\u306b\u542b\u307e\u308c\u5f97\u308b\u304b\u3089\u3067\u3042\u308b\u3002\u518d\u691c\u67fb\u3059\u308b\u304b\u3069\u3046\u304b\u306f\u3001\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u305f\u3081\u306b\u518d\u691c\u67fb\u3059\u308b\u3053\u3068\u306e\u5229\u76ca\u306b\u3064\u3044\u3066\u3082\u3063\u3068\u3082\u3088\u304f\u8a55\u4fa1\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u907a\u4f1d\u5b66\u306e\u5c02\u9580\u5bb6\u306e\u30ac\u30a4\u30c0\u30f3\u30b9\u3092\u53d7\u3051\u305f\u3046\u3048\u3067\u6c7a\u5b9a\u3059\u3079\u304d\u3067\u3042\u308b\u3002<br>\u30fb\u51fa\u751f\u524d\u306e\u4fdd\u56e0\u8005\u691c\u67fb\u306f\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u53d6\u3063\u3066\u4ee3\u308f\u308b\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3082\u307e\u305f\u51fa\u751f\u524d\u306e\u4fdd\u56e0\u8005\u691c\u67fb\u306e\u6f5c\u5728\u7684\u4fa1\u5024\u306b\u53d6\u3063\u3066\u4ee3\u308f\u308b\u3082\u306e\u3067\u306f\u306a\u3044\u3002<br>\u30fb\u3082\u3057\u60a3\u8005\u304c\u3001\u5229\u7528\u53ef\u80fd\u3067\u307b\u304b\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3088\u308a\u3082\u5408\u7406\u7684\u306a\u7279\u5b9a\u306e\u75be\u60a3\u30d9\u30fc\u30b9\u306e\u4fdd\u56e0\u8005\u691c\u67fb\u3092\u5e0c\u671b\u3059\u308b\u5834\u5408\u306f\u3001\u30ea\u30b9\u30af\u3068\u5229\u76ca\u3001\u691c\u67fb\u306e\u9650\u754c\u306b\u3064\u3044\u3066\u8aac\u660e\u3092\u53d7\u3051\u305f\u4e0a\u3067\u3001\u5e0c\u671b\u3059\u308b\u691c\u67fb\u304c \uff08\u6c11\u65cf\u3084\u5bb6\u65cf\u6b74\u306b\u304b\u304b\u308f\u3089\u305a\uff09 \u60a3\u8005\u306b\u63d0\u4f9b\u3055\u308c\u308b\u3079\u304d\u3067\u3042\u308b\u3002<br>\u30fb\u500b\u3005\u306e\u75be\u60a3\u30d9\u30fc\u30b9\u306e\u4fdd\u56e0\u8005\u691c\u67fb\u306e\u30b3\u30b9\u30c8\u304c\u3001\u5546\u696d\u7684\u306b\u6d41\u901a\u3057\u3066\u3044\u308bECS\u3088\u308a\u3082\u9ad8\u984d\u3067\u3042\u308b\u3053\u3068\u304c\u3042\u308b\u3002\u4fdd\u56e0\u8005\u691c\u67fb\u306e\u65b9\u91dd\u3092\u9078\u629e\u3059\u308b\u3068\u304d\u3001\u60a3\u8005\u3068\u533b\u7642\u5236\u5ea6\u306b\u3068\u3063\u3066\u306e\u30b3\u30b9\u30c8\u304c\u8003\u616e\u3055\u308c\u308b\u3079\u304d\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<div class=\"about-231\">\n  <h2>\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u907a\u4f1d\u5b50\u306e\u691c\u67fb\u306b\u3064\u3044\u3066<\/h2>\n  <div class=\"container\">\n    <div class=\"accordion-wrap\">\n      <div class=\"accordion-button\">\n        <p>\u691c\u67fb\u306e\u65b9\u6cd5\/\u691c\u67fb\u306e\u9650\u754c<\/p>\n      <\/div>\n      <div class=\"accordion-text\">\n        <p>\n \n  \u30b2\u30ce\u30e0\u30c7\u30aa\u30ad\u30b7\u30ea\u30dc\u6838\u9178(gDNA)\u3092\u3001\u6a19\u6e96\u5316\u3055\u308c\u305f\u65b9\u6cd5\u3092\u7528\u3044\u3066\u62bd\u51fa\u3057\u3001DNA\u30e9\u30a4\u30d6\u30e9\u30ea\u30fc\u8abf\u88fd\u306e\u524d\u306b\u6a5f\u68b0\u7684\u30d5\u30e9\u30b0\u30e1\u30f3\u30c6\u30fc\u30b7\u30e7\u30f3\u3055\u305b\u307e\u3059\u3002<br>\n  \u76ee\u7684\u306e\u30b2\u30ce\u30e0\u9818\u57df\u306eDNA\u6fc3\u7e2e\u306f\u3001\u6eb6\u6db2\u30d9\u30fc\u30b9\u306e\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u6cd5\u3092\u7528\u3044\u3066\u884c\u3044\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0(NGS)\u3092\u914d\u5217\u3092\u6c7a\u5b9a\u3057\u307e\u3059\u3002<br>\n  \u8aad\u307f\u51fa\u3055\u308c\u305f\u914d\u5217\u30c7\u30fc\u30bf\u3092\u53c2\u7167\u30b2\u30ce\u30e0\u306b\u53c2\u7167\u3055\u305b\u3001\u72ec\u81ea\u306e\u30d0\u30a4\u30aa\u30a4\u30f3\u30d5\u30a9\u30de\u30c6\u30a3\u30af\u30b9\u30d1\u30a4\u30d7\u30e9\u30a4\u30f3\u3092\u7528\u3044\u3066\u5909\u7570\u3092\u540c\u5b9a\u3057\u307e\u3059\u3002<br>\n  \u6f5c\u6027\u907a\u4f1d\u306f\u3001\u4e00\u5869\u57fa\u5909\u7570\u4f53\u3001\u5c0f\u3055\u306a\u633f\u5165\u304a\u3088\u3073\u6b20\u5931(\u226630\u5869\u57fa)\u304a\u3088\u3073\u30b3\u30d4\u30fc\u6570\u5909\u7570(CNV)\u306e\u540c\u5b9a\u304c\u53ef\u80fd\u3067\u3059\u3002<br>\n  American College of Medical Genomics and Genomics 3-5\u306e\u57fa\u6e96\u306b\u5f93\u3063\u3066\u5909\u7570\u4f53\u306f\u5206\u985e\u3055\u308c\u307e\u3059\u3002<br>\n  \u30d0\u30ea\u30a2\u30f3\u30c8\u306e\u5206\u985e\u304a\u3088\u3073\u89e3\u91c8\u306f\u3001Varsome Clinical\u30d7\u30e9\u30c3\u30c8\u30d5\u30a9\u30fc\u30e0\u3092\u7528\u3044\u3066\u5b9f\u65bd\u3055\u308c\u3001\u691c\u67fb\u6642\u306e\u60c5\u5831\u306b\u57fa\u3065\u3044\u3066\u3044\u307e\u3059\u3002<br>\n  <span class=\"bold\">\u75c5\u539f\u6027\u304a\u3088\u3073\u75c5\u539f\u6027\u306e\u7591\u3044\u306e\u5909\u7570\u306e\u307f\u304c\u5831\u544a\u3055\u308c\u307e\u3059\u3002\u691c\u51fa\u3055\u308c\u308b\u304c\u3001\u610f\u7fa9\u4e0d\u660e\u306e\u5909\u7570\u4f53\u3001\u826f\u6027\u306e\u5909\u7570\u307e\u305f\u306f\u826f\u6027\u306e\u53ef\u80fd\u6027\u304c\u3042\u308b\u5909\u7570\u3064\u3044\u3066\u306f\u5831\u544a\u3055\u308c\u307e\u305b\u3093\u3002<\/span><br>\n  \u81e8\u5e8a\u7684\u89e3\u91c8\u304a\u3088\u3073\u7d50\u679c\u306b\u95a2\u3057\u3066\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<br>\n  \n  A: \u5e38\u67d3\u8272\u4f53\u306e\u7d50\u679c\u304c\u4ee5\u4e0b\u306e\u5834\u5408\uff1a<br>\n  A-1:\u300c\u81e8\u5e8a\u7684\u306b\u6709\u610f\u306a\u5909\u7570\u4f53\u304c\u691c\u51fa\u3055\u308c\u306a\u304b\u3063\u305f\u300d<br>\n  \u88ab\u691c\u8005\u304c\u907a\u4f1d\u6027\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u3067\u306f\u306a\u3044\u3053\u3068\u3092\u5b8c\u5168\u306b\u4fdd\u8a3c\u3059\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u907a\u4f1d\u5b50\u5909\u7570\u304c\u5b58\u5728\u3057\u306a\u3044\u3053\u3068\u3092\u793a\u3057\u3001\u30ad\u30e3\u30ea\u30a2\u306e\u53ef\u80fd\u6027\u304c\u4f4e\u3044\u3068\u8a00\u3048\u307e\u3059\u3002<br>\n  A-2:\u300c\u81e8\u5e8a\u7684\u306b\u6709\u610f\u306a\u5909\u7570\u4f53\u304c\u691c\u51fa\u3055\u308c\u305f\u300d<br>\n  \u907a\u4f1d\u5b50\u5909\u5316\u304c\u540c\u5b9a\u3055\u308c\u3001\u88ab\u691c\u8005\u304c\u305d\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u307e\u3059\u3002<br>\n  \u305d\u306e\u5834\u5408\u306b\u306f2\u3064\u4ee5\u4e0a\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\u3048\u307e\u3059\u3002<br>\n  \u30ad\u30e3\u30ea\u30a2\u306f\u901a\u5e38\u3001\u75be\u60a3\u306e\u75c7\u72b6\u3092\u6709\u3057\u307e\u305b\u3093\u3002<br>\n  \u3057\u304b\u3057\u306a\u304c\u3089\u3001\u4e8c\u672c\u306e\u67d3\u8272\u4f53\u306e\u907a\u4f1d\u5b50\u304c\u3068\u3082\u306b\u7570\u5e38\u3092\u793a\u3057\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u305d\u306e\u5834\u5408\u306b\u306f\u88ab\u691c\u8005\u304c\u73fe\u5728\u7f79\u60a3\u3057\u3066\u3044\u308b\u3001\u307e\u305f\u306f\u5c06\u6765\u7f79\u60a3\u3059\u308b\u53ef\u80fd\u6027\u3082\u5426\u5b9a\u3067\u304d\u307e\u305b\u3093\u3002<br>\n  \n  B: X\u9023\u9396\u907a\u4f1d\u6027\u75be\u60a3\u306e\u5834\u5408\uff1a<br>\n  B-1:\u300c\u81e8\u5e8a\u7684\u306b\u6709\u610f\u306a\u5909\u7570\u4f53\u304c\u691c\u51fa\u3055\u308c\u306a\u304b\u3063\u305f\u300d<br>\n  \u907a\u4f1d\u6027\u5909\u7570\u4f53\u304c\u5b58\u5728\u3057\u306a\u3044\u3053\u3068\u3092\u793a\u3057\u3001\u88ab\u691c\u8005\u304c\u7537\u6027\u306e\u5834\u5408\u7f79\u60a3\u3057\u3066\u3044\u306a\u3044\u3053\u3068\u3001\u88ab\u691c\u8005\u304c\u5973\u6027\u306e\u5834\u5408\u30ad\u30e3\u30ea\u30a2\u306e\u53ef\u80fd\u6027\u304c\u4f4e\u3044\u3068\u8a00\u3048\u307e\u3059\u304c\u3001\u5b8c\u5168\u306b\u5426\u5b9a\u3059\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<br>\n  B-2:\u300c\u81e8\u5e8a\u7684\u306b\u6709\u610f\u306a\u5909\u7570\u4f53\u304c\u691c\u51fa\u3055\u308c\u305f\u300d\uff1a<br>\n  \u907a\u4f1d\u5b50\u5909\u5316\u304c\u540c\u5b9a\u3055\u308c\u305f\u3053\u3068\u3092\u793a\u3057\u307e\u3059\u3002\u5973\u6027\u88ab\u691c\u8005\u306e\u5834\u5408\u306f\u30ad\u30e3\u30ea\u30a2\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<br>\n  \u88ab\u691c\u8005\u304c\u7537\u6027\u306e\u5834\u5408\u306f\u3001\u73fe\u5728\u7f79\u60a3\u3057\u3066\u3044\u308b\u304b\u307e\u305f\u306f\u5c06\u6765\u75be\u60a3\u304c\u767a\u75c7\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u307e\u3059\u3002<br>\n  \u3057\u304b\u3057\u3001\u3053\u306e\u30d1\u30cd\u30eb\u306e\u75be\u60a3\u7fa4\u306f\u91cd\u75c7\u5ea6\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u81e8\u5e8a\u7684\u306b\u75c7\u72b6\u306f\u73fe\u308c\u306a\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<br>\n  \u8a66\u9a13\u306e\u76ee\u7684\u306f\u3001\u3059\u3079\u3066\u306e\u30b3\u30fc\u30c9\u30a8\u30ad\u30bd\u30f3\u3001MANE\u304a\u3088\u3073\/\u307e\u305f\u306f\u6a19\u6e96\u8ee2\u5199\u7523\u7269\u3001\u304a\u3088\u3073\u96a3\u63a5\u3059\u308b\u30a4\u30f3\u30c8\u30ed\u30f3\u914d\u5217\u306e10bp\u3092\u6a19\u7684\u3068\u3059\u308b\u3053\u3068\u306b\u3088\u308a\u3001\u691c\u51fa\u907a\u4f1d\u5b50\u306b\u95a2\u9023\u3059\u308b\u3059\u3079\u3066\u306e\u5909\u7570\u4f53\u3092\u691c\u51fa\u3057\u307e\u3059\u3002<br>\n  \u6a19\u7684\u9818\u57df\u306e\u5916\u5074\u306b\u3042\u308b\u5909\u7570\u4f53\u306f\u3001\u3053\u306e\u30a2\u30c3\u30bb\u30a4\u306b\u3088\u3063\u3066\u691c\u51fa\u3055\u308c\u308b\u3053\u3068\u306f\u610f\u56f3\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<br>\n  \u7279\u306b\u65ad\u3089\u306a\u3044\u9650\u308a\u3001\u30d7\u30ed\u30e2\u30fc\u30bf\u30fc\u304a\u3088\u3073\u4ed6\u306e\u975e\u30b3\u30fc\u30c9\u9818\u57df\u306b\u304a\u3051\u308b\u914d\u5217\u5909\u5316(SNV\u304a\u3088\u3073INDELS)\u306f\u3001\u3053\u306e\u30a2\u30c3\u30bb\u30a4\u3067\u306f\u691c\u51fa\u3055\u308c\u307e\u305b\u3093\u3002<br>\n  \u691c\u51fa\u907a\u4f1d\u5b50\u306e\u81e8\u5e8a\u7684\u306b\u91cd\u8981\u3068\u8003\u3048\u3089\u308c\u308b\u975e\u30b3\u30fc\u30c9\u9818\u57df\u306b\u304a\u3051\u308b\u7279\u5b9a\u306e\u914d\u5217\u5909\u5316(SNV\u304a\u3088\u3073INDELS)\u306f\u5206\u6790\u306b\u542b\u307e\u308c\u307e\u3059\u3002<br>\n  \u907a\u4f1d\u5b50\u306b2\u3064\u306e\u5909\u7570\u4f53\u304c\u540c\u5b9a\u3055\u308c\u305f\u5834\u5408\u3001\u3053\u308c\u3089\u304c1\u672c\u306e\u67d3\u8272\u4f53\u4e0a(\u30b7\u30b9)\u306b\u3042\u308b\u306e\u304b\u3001\u5225\u306e\u67d3\u8272\u4f53\u4e0a(\u30c8\u30e9\u30f3\u30b9)\u306b\u3042\u308b\u306e\u304b\u3092\u533a\u5225\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<br>\n  \u9006\u4f4d\u3001\u518d\u7de8\u6210\u3001\u500d\u6570\u6027\u3001\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u306a\u5f71\u97ff\u306a\u3069\u306e\u907a\u4f1d\u5b50\u5909\u5316\u306f\u3001\u3053\u306e\u691c\u67fb\u306e\u5bfe\u8c61\u3068\u306a\u308a\u307e\u305b\u3093\u3002<br>\n  \u53cd\u5fa9\u914d\u5217\u3092\u542b\u3080\u6a19\u7684\u9818\u57df\u306b\u304a\u3051\u308b\u7279\u5b9a\u306e\u914d\u5217\u5909\u5316(SNV\u304a\u3088\u3073INDELS)\u3001\u5206\u7bc0\u7684\u91cd\u8907\u304a\u3088\u3073\u507d\u907a\u4f1d\u5b50\u306e\u3088\u3046\u306a\u9ad8\u3044\u76f8\u540c\u6027\u306e\u914d\u5217\u3001\u306a\u3089\u3073\u306b\u9ad8\/\u4f4eGC\u542b\u91cf\u306e\u9818\u57df\u306f\u691c\u51fa\u3055\u308c\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<br>\n  Copy Number Variations(CNV)\u306f\u91cd\u8907\u3092\u3055\u3051\u3001\u4e00\u610f\u306b\u6574\u5217\u3057\u305f\u9ad8\u54c1\u8cea\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\u30ea\u30fc\u30c9\u3092\u7528\u3044\u3066\u8a08\u7b97\u3055\u308c\u307e\u3059\u3002<br>\n  GC\u542b\u6709\u91cf\u306e\u6b63\u898f\u5316\u3068\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\u7bc4\u56f2\u30a2\u30d7\u30ed\u30fc\u30c1\u306e\u6df1\u3055\u3092\u7528\u3044\u3066\u3001\u6a19\u7684\u9818\u57df\u306e\u30b5\u30d6\u30bb\u30c3\u30c8\u306b\u5bfe\u3057\u3066CNV\u306f\u691c\u51fa\u3055\u308c\u307e\u3059\u3002<br>\n  \u691c\u51fa\u3057\u305fcoverage\u304c\u3001\u53c2\u8003\u5148\u304b\u3089\u63a8\u5b9a\u3055\u308c\u308bcoverage\u304b\u3089\u8457\u3057\u304f\u9038\u8131\u3057\u3066\u3044\u308b\u5834\u5408\u306bCNV\u306e\u7570\u5e38\u3092\u691c\u51fa\u3057\u307e\u3059\u3002<br>\n  CNV\u306e\u691c\u51fa\u306f\u6570\u500b\u306e\u30a8\u30ad\u30bd\u30f3\u30ec\u30d9\u30eb\u306e\u5206\u89e3\u80fd\u307e\u3067\u53ef\u80fd\u3067\u3059\u3002<br>\n  CNV\u304c\u967d\u6027\u3067\u3042\u3063\u305f\u5834\u5408\u306b\u306f\u76f4\u4ea4\u6cd5\u3092\u7528\u3044\u3066\u78ba\u8a8d\u3057\u3066\u3044\u307e\u3059\u3002<br>\n  \u307b\u3068\u3093\u3069\u30de\u30c3\u30d4\u30f3\u30b0\u3055\u308c\u3066\u3044\u306a\u3044\u9818\u57df\u3001\u53cd\u5fa9\u914d\u5217\u3001\u507d\u907a\u4f1d\u5b50\u3001\u9ad8\/\u4f4eGC\u542b\u91cf\u306e\u3044\u305a\u308c\u304b\u3092\u542b\u3093\u3067\u3044\u308b\u30b2\u30ce\u30e0\u9818\u57df\u3067\u306f\u3001CNV\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<br><br>\n  <span class=\"bold\">NGS\u3092\u7528\u3044\u305fCNV\u306e\u691c\u51fa\u306f\u3001\u76f4\u4ea4\u5b9a\u91cf\u6cd5\u3088\u308a\u3082\u611f\u5ea6\/\u7279\u7570\u5ea6\u304c\u4f4e\u3044\u305f\u3081\u3001\u5831\u544a\u3055\u308c\u305fCNV\u304c\u5b58\u5728\u3057\u306a\u3044\u304b\u3089\u3068\u3044\u3063\u3066\u3001CNV\u304c\u5b58\u5728\u3057\u306a\u3044\u3053\u3068\u3092\u4fdd\u8a3c\u3059\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/span><br>\n  \u6a19\u7684\u907a\u4f1d\u5b50\u306b\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u5909\u7570\u4f53\u304c\u5b58\u5728\u3057\u306a\u3044\u3068\u3044\u3046\u4e8b\u5b9f\u306f\u75be\u60a3\u306e\u53ef\u80fd\u6027\u3092\u6e1b\u5c11\u3055\u305b\u307e\u3059\u304c\u3001\u75be\u60a3\u95a2\u9023\u75c7\u5019\u7fa4\u306e\u53ef\u80fd\u6027\u3092\u5b8c\u5168\u306b\u6392\u9664\u3059\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<br>\n<\/p>\n  <\/div>\n  <\/div>\n  \n  <div class=\"accordion-wrap\">\t\t\t\t\t\n    <div class=\"accordion-button\">\n      <p>\u8ffd\u52a0\u60c5\u5831\u30fb\u958b\u793a<\/p>\n    <\/div>\n    <div class=\"accordion-text\">\n      <p>\n  \u691c\u67fb\u3067\u306f\u3001\u691c\u67fb\u3055\u308c\u305f\u75be\u60a3\u306b\u95a2\u9023\u3059\u308b\u3059\u3079\u3066\u306e\u5909\u7570\u304c\u540c\u5b9a\u3055\u308c\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<br>\n  <span class=\"bold\">\u3053\u306e\u691c\u67fb\u306f\u304d\u308f\u3081\u3066\u6b63\u78ba\u3067\u3042\u308a\u307e\u3059\u304c\u3001\u507d\u967d\u6027\u307e\u305f\u306f\u507d\u9670\u6027\u306e\u53ef\u80fd\u6027\u306f\u4f9d\u7136\u3068\u3057\u3066\u5b58\u5728\u3057\u3001\u6280\u8853\u7684\u307e\u305f\u306f\u751f\u7269\u5b66\u7684\u5236\u9650\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/span><br>\n  \u307e\u308c\u306a\u907a\u4f1d\u7684\u5909\u7570\u4f53\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u73fe\u8c61\u3001\u8f38\u8840\u3001\u9aa8\u9ac4\u79fb\u690d\u3001\u307e\u305f\u306f\u4ed6\u306e\u307e\u308c\u306a\u5206\u5b50\u4e8b\u8c61\u304c\u542b\u307e\u308c\u307e\u3059\u3002<br>\n  \u691c\u51fa\u3055\u308c\u306a\u3044\u907a\u4f1d\u5b50\u5909\u5316\u306e\u4e2d\u306b\u306f\u3001\u7f79\u60a3\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u306b\u3088\u3063\u3066\u691c\u67fb\u3055\u308c\u306a\u3044\u3082\u306e\u3082\u3042\u308a\u307e\u3059\u3002<br>\n  \u907a\u4f1d\u5b50\u691c\u67fb\u306f\u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\u306e\u91cd\u8981\u306a\u90e8\u5206\u3067\u3059\u304c\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306f\u5fc5\u305a\u3057\u3082\u6c7a\u5b9a\u7684\u306a\u7b54\u3048\u3092\u4e0e\u3048\u308b\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u3002\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u3001\u907a\u4f1d\u5b50\u5909\u7570\u304c\u5b58\u5728\u3057\u3066\u3044\u3066\u3082\u3001\u691c\u67fb\u306b\u3088\u3063\u3066\u907a\u4f1d\u5b50\u5909\u7570\u304c\u540c\u5b9a\u3055\u308c\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<br>\n  \u3053\u308c\u306f\u3001\u73fe\u5728\u306e\u533b\u5b66\u7684\u77e5\u8b58\u307e\u305f\u306f\u691c\u67fb\u6280\u8853\u306b\u304a\u3051\u308b\u9650\u754c\u306b\u8d77\u56e0\u3057\u3066\u304a\u308a\u307e\u3059\u3002<br>\n  \u4ed6\u306e\u81e8\u5e8a\u30c7\u30fc\u30bf\u304a\u3088\u3073\u81e8\u5e8a\u6240\u898b\u3092\u540c\u6642\u306b\u7528\u3044\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<br>\n  \u7d50\u679c\u7d50\u679c\u306f\u3001\u4ed6\u306e\u81e8\u5e8a\u6240\u898b\u3068\u306e\u95a2\u9023\u3067\u5e38\u306b\u8003\u616e\u3055\u308c\u308b\u3079\u304d\u3082\u306e\u3067\u3042\u308a\u307e\u3059\u3002<br>\n  \u691c\u67fb\u3092\u7d39\u4ecb\u3057\u305f\u81e8\u5e8a\u533b\u306f\u3001\u8ffd\u52a0\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u5fc5\u8981\u6027\u306b\u95a2\u3059\u308b\u52a9\u8a00\u3092\u542b\u3081\u3001\u691c\u67fb\u524d\u5f8c\u306e\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u8cac\u4efb\u3092\u8ca0\u3044\u307e\u3059\u3002<br>\n  \u305d\u306e\u4ed6\u306e\u8a3a\u65ad\u691c\u67fb\u304c\u5fc5\u8981\u306a\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\n      <\/p>\n     <\/div>\n  <\/div>\n  <\/section>\n  \n   <style>\n  .about-231 .accordion-wrap{\n   margin-bottom: 15px;\n  }\n  .about-231 .accordion-button p{\n   padding: 15px;\n   background-color: #f3e2e9;\n   border: 1px solid #e54c84;\n   position: relative;\n  }\n  .about-231 .accordion-button p:after{\n   content: '';\n   width: 10px;\n   height: 10px;\n   border-top: solid 2px #e54c84;\n   border-right: solid 2px #e54c84;\n   position: absolute;\n   right: 15px;\n   top: 35%;\n   transform: rotate(135deg);\n  }\n  .about-231 ul{\n   list-style: none;\n   padding: 0 0 20px;\n  }\n  .accordion-text{\n   display: none;\n  }\n  <\/style>\n\n\n\n\n\n<style>\n    #main_col .post_main_title {\n        display: none !important;\n    }\n\n    @media (min-width: 771px) {\n        .new-accordion .pagein_cta_button .reservation_button {\n            right: 40px;\n            padding: 0;\n            max-width: 220px;\n        }\n    }\n<\/style>\n\n\n\n<script type='text\/javascript' src='https:\/\/ajax.googleapis.com\/ajax\/libs\/jquery\/3.5.1\/jquery.min.js'>  <\/script>\n  <script>\n  \/\/ Accordion Jquery \n\n jQuery(function($) {\n  $('.accordion-button').on('click', function() {\n    if ($(this).siblings('.accordion-text').css('display') == 'none') {\n      $(this).addClass('open');\n      $(this).siblings('.accordion-text').slideDown();\n      $(this).find('.material-symbols-outlined').html('remove');\n    } else {\n      $(this).removeClass('open');\n      $(this).siblings('.accordion-text').slideUp();\n      $(this).find('.material-symbols-outlined').html('add');\n    }\n  });\n});\n  <\/script>\n\n\n<div class=\"newcta\">\r\n <a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\">\r\n  <p class=\"jisseki mincho\">NIPT\u691c\u67fb\u5b9f\u7e3e<span class=\"big\">68,000<span>\u4ef6\u4ee5\u4e0a<\/span><\/span><\/p>\r\n  <p class=\"res-btn\">\u7a7a\u304d\u72b6\u6cc1\u3092\u78ba\u8a8d\u3057\u3066\u4e88\u7d04\u3059\u308b<\/p>\r\n <\/a>\r\n<\/div>\r\n<style>\r\n.newcta{\r\n  margin:1rem auto 2rem;\r\n}\r\n.newcta a{\r\n  width:100%;\r\n  max-width:500px;\r\n  margin:0 auto;\r\n  display:block;\r\n  text-decoration:none;\r\n  text-align:center;\r\n}\r\n.newcta p{\r\n  margin:0 auto;\r\n}\r\n.newcta .jisseki{\r\n  margin:0 auto;\r\n  position:relative;\r\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\r\n  background: linear-gradient(to bottom, #b68d3c 0%, #e2b95f 35%, #b68d3c);\r\n  -webkit-background-clip: text;\r\n  color: rgba(0,0,0,0);\r\n  font-weight:bold;\r\n  display:inline-flex;\r\n  flex-wrap:wrap;\r\n  align-items:center;\r\n  justify-content:center;\r\n  gap:.5rem;\r\n  padding-bottom:1rem;\r\n}\r\n.newcta .jisseki span{\r\n  font-size:2rem;\r\n}\r\n.newcta .jisseki span span{\r\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\r\n}\r\n.newcta .res-btn{\r\n  display:inline-block;\r\n  background:#f0a3b8;\r\n  padding:1.5rem 2rem;\r\n  text-align:center;\r\n  border-radius:1rem;\r\n  box-shadow:0 .5rem .5rem #f0a3b866;\r\n  color:#fff;\r\n  font-size:1.2rem;\r\n  font-weight:bold;\r\n  letter-spacing:.2rem;\r\n  min-width:320px;\r\n}\r\n@media screen and (max-width:500px){\r\n  .newcta .jisseki .big{\r\n    width:100%;\r\n  }\r\n  .newcta .res-btn{\r\n    padding:1.5rem 0;\r\n  }\r\n}\r\n<\/style>\r\n<div class=\"old-cta\">\r\n<div class=\"container\" style=\"padding:10px\">\r\n<div class=\"nipt-bnr mincho\">\r\n<a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\">\r\n<p class=\"jisseki font-s gothic\">NIPT\u691c\u67fb\u5b9f\u7e3e<\/p>\r\n<p class=\"total font-m\"><span class=\"gold font-l\">68,000<\/span>\u4ef6<\/p>\r\n<p class=\"res font-s gothic\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089\u25b6\ufe0e\u25b6\ufe0e\u25b6\ufe0e<\/p>\r\n<\/a>\r\n<\/div>\r\n<\/div>\r\n<\/div>\r\n<div class=\"content-center\" style=\"max-width:1200px;margin:0 auto;width:90%\">\r\n <div class=\"image-text-block\">\r\n<a href=\"\/nipt\/20th-anniversary\/\" style=\"max-width:825px;margin:0.5rem auto\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/forplan_btn.webp\" style=\"width:100%\"><\/a>\r\n <\/div>\r\n<\/div>\r\n<style>\r\n.old-cta{\r\n  display:none;\r\n}\r\n.nipt-bnr{\r\n  display:flex;\r\n  justify-content:center;\r\n  align-items:center;\r\n  width:calc(100% - 3rem);\r\n  min-width:350px;\r\n  max-width:480px;\r\n  aspect-ratio:11 \/ 5;\r\n  position:relative;\r\n  margin:1rem auto;\r\n  background-image:linear-gradient(to bottom,#63513c,#63513c,#feef7b,#63513c,#63513c);\r\n  border-radius:8px;\r\n  box-shadow:6px 6px 6px #999;\r\n}\r\n.nipt-bnr .gold{\r\n  background:linear-gradient(to bottom,#d1ac60,#e8ca74 50%,#d29e30,#ac7726);\r\n  -webkit-background-clip: text;\r\n  -webkit-text-fill-color: transparent;\r\n  font-weight:bold;\r\n}\r\n.cta-btn-nipt-reservation-wimg{\r\n  text-decoration:none;\r\n  border-bottom:initial;\r\n}\r\n.label-link {\r\n  align-items: center;\r\n  text-decoration: none;\r\n  gap: 8px;\r\n}\r\n.image-text-block {\r\n  text-align: center;\r\n}\r\n.tittle_price{\r\n font-weight:900;\r\n font-size:2rem;\r\n color:#e54c84;\r\n text-align:center;\r\n border-bottom:none;\r\n margin-bottom:-10px;\r\n}\r\n.box_11 {\r\n  width: 12px;\r\n  height: 12px;\r\n  background-color: #e54c84;\r\n  border-radius: 2px;\r\n  flex-shrink: 0;\r\n}\r\n.center-container {\r\n  text-align: center;\r\n}\r\n.label-box{\r\ndisplay:block;\r\nfont-size:1.3rem !important;\r\nfont-weight:900;\r\ncolor:#e54c84;\r\ntext-align:right;\r\n}\r\n<\/style>\n","protected":false},"excerpt":{"rendered":"\u73fe\u5728\u306f\u56fd\u5185\u691c\u67fb\u3092\u884c\u306a\u3063\u3066\u304a\u308a\u307e\u305b\u3093\u3002 \u6d77&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":80,"featured_media":0,"parent":2,"menu_order":88,"comment_status":"closed","ping_status":"closed","template":"page_wide.php","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-70616","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/70616","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/80"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=70616"}],"version-history":[{"count":97,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/70616\/revisions"}],"predecessor-version":[{"id":127962,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/70616\/revisions\/127962"}],"up":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/2"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=70616"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}