{"id":71954,"date":"2024-01-10T16:42:34","date_gmt":"2024-01-10T07:42:34","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/"},"modified":"2025-11-11T13:36:16","modified_gmt":"2025-11-11T04:36:16","slug":"autosomal-recessive-inheritance","status":"publish","type":"page","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/?lang=zh-hans","title":{"rendered":"\u5728Hiro\u8bca\u6240\u80fd\u53d1\u73b0\u7684228\u79cd\u9690\u6027\u9057\u4f20\u75be\u75c5"},"content":{"rendered":"\n<section class=\"sec1\">\n<h2>\u5173\u4e8e228\u79cd\u9690\u6027\u9057\u4f20\u57fa\u56e0\u68c0\u6d4b<\/h2>\n<div class=\"pink-pointbox\">\n<p><span class=\"pink-pointmoji\">\u5728Hiro \u8bca\u6240\uff0c\u6211\u4eec\u63d0\u4f9b\u4e00\u9879\u53ef\u4ee5\u68c0\u6d4b\u4e0e228\u79cd\u4e25\u91cd\u9690\u6027\u9057\u4f20\u75be\u75c5\u76f8\u5173\u7684\u57fa\u56e0\u7684\u68c0\u6d4b\uff0c\u8fd9\u53ef\u4ee5\u5728\u80ce\u513f\u51fa\u751f\u524d\u8fdb\u884c\u3002<\/span><\/p>\n<p class=\"ex\">\n<span class=\"pink-pointmoji\">\u9690\u6027\u9057\u4f20\u75be\u75c5\u662f\u6307\u5f53\u57fa\u56e0\u53d1\u751f\u5f02\u5e38\u65f6\u53ef\u80fd\u5f15\u53d1\u7684\u75be\u75c5\u3002<\/span><br>\n\u5728\u8fd9\u9879\u68c0\u6d4b\u4e2d\uff0c<span class=\"pink-pointmoji\">\u6211\u4eec\u4f1a\u4ece\u7236\u6bcd\u7684\u53e3\u8154\u9ecf\u819c\u4e2d\u63d0\u53d6\u57fa\u56e0\u6837\u672c\uff0c\u5e76\u8fdb\u884c\u5206\u6790\uff0c<\/span><br>\u4ee5\u786e\u5b9a\u7236\u6bcd\u662f\u5426\u643a\u5e26\u6709\u57fa\u56e0\u5f02\u5e38\u3002<br>\n\u901a\u8fc7\u68c0\u6d4b\u7236\u6bcd\u662f\u5426\u5728\u540c\u4e00\u4f4d\u7f6e\u643a\u5e26\u57fa\u56e0\u5f02\u5e38\uff0c<span class=\"pink-pointmoji\">\u6211\u4eec\u53ef\u4ee5\u9884\u6d4b\u80ce\u513f\u60a3\u6709\u4e25\u91cd\u9057\u4f20\u75be\u75c5\u7684\u98ce\u9669<\/span>\u3002<br>\n\u4f8b\u5982\uff0c<span class=\"pink-pointmoji\">\u5982\u679c\u7236\u6bcd\u5728\u540c\u4e00\u57fa\u56e0\u4e0a\u643a\u5e26\u5f02\u5e38\uff0c\u90a3\u4e48\u4ed6\u4eec\u7684\u5b50\u5973\u60a3\u6709\u9690\u6027\u9057\u4f20\u75be\u75c5\u7684\u98ce\u9669\u5c06\u4f1a\u589e\u52a0<\/span>\uff08\u7ea6\u4e3a25%\uff09\u3002\u5982\u679c\u68c0\u6d4b\u7ed3\u679c\u4e3a\u9633\u6027\uff0c\u5219\u9700\u8981\u8fdb\u884c\u7f8a\u6c34\u7a7f\u523a\u68c0\u67e5\u4ee5\u786e\u5b9a\u7ed3\u679c\u3002\n<\/p>\n<\/div>\n<p>\u90a3\u4e48\uff0c\u5bf9\u4e8e\u8fd9\u6837\u7684\u4eba\u8fdb\u884c\u4ec0\u4e48\u6837\u7684\u68c0\u6d4b\uff1f\u53c8\u4f1a\u53d1\u73b0\u54ea\u4e9b\u75be\u75c5\u5462\uff1f<\/p>\n<\/section>\n\n<style>\n.pink-pointbox {\n    background-color: #fff9fb;\n    border-radius: 6px;\n    border: 3px dashed #fdb0bc;\n    font-size: 100%;\n    padding: 10px;\n    margin-bottom: 1rem;\n}\n  .pink-pointbox .ex{\n    margin-bottom: 0!important;\n}\n  .pink-pointmoji {\n   color: red;\n}\n@media screen and (max-width: 700px) {\n    .sec1 p {\n      margin: 0.5rem;\n    }\n}\n@media screen and (min-width: 701px) {\n    .sp-only {\n     display: none;\n}\n}\n<\/style>\n\n\n\n<!-- Reservation button installed under FV-->\n<section id=\"cv-button\">\n <p class=\"cv-text\">\u4e16\u754c\u6700\u9ad8\u6807\u51c6\u7684\u65b0\u4e00\u4ee3NIPT<\/p>\n <div class=\"cv-btn new-btn\">\n   <p>\u65b0\u7528\u6237\u6309\u6b64<\/p>\n   <div class=\"btn-effect\">\n     <a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/zh\/registration\/\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2024\/04\/cn-ctap-new202412.png\" alt=\"\u65b0\u898f\u767b\u9332\"><\/a>\n   <\/div>\n <\/div>\n <div class=\"cv-btn my-btn\">\n   <p>\u5df2\u767b\u8bb0\u7528\u6237\u6309\u6b64<\/p>\n   <div class=\"btn-effect\">\n     <a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/zh\/login\/\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2024\/04\/cn-ctaor-new202412.png\" alt=\"\u30de\u30a4\u30da\u30fc\u30b8\"><\/a>\n <\/div>\n <p class=\"cv-text\">24\u5c0f\u65f6\u63a5\u53d7\u9884\u8ba2\u4e2d<\/p>\n<\/section>\n\n<style>\n#cv-button{\n background-color: #fef4f8;\n \/*background-color: #fff8cf;*\/\n background-image: repeating-linear-gradient(45deg,transparent,transparent 5px,rgba(255,255,255,.5) 5px,rgba(255,255,255,.5) 10px);\n padding: 30px;\n}\n.btn-effect{\n max-width: 450px;\n width: 100%;\n margin: 0 auto;\n position:relative;\n overflow:hidden;\n}\n.btn-effect::after {\ncontent:\"\";\nheight:100%;\nwidth:30px;\nposition:absolute;\ntop:-180px;\nleft:0;\nbackground-color: #fff;\nopacity:0;\n-webkit-transform: rotate(45deg);\n-webkit-animation: reflection 2s ease-in-out infinite;\n}\n@keyframes reflection {\n0% { -webkit-transform: scale(0) rotate(45deg); opacity: 0; }\n60% { -webkit-transform: scale(0) rotate(45deg); opacity: 0.8; }\n100% { -webkit-transform: scale(50) rotate(45deg); opacity: 0; }\n}\n.cv-btn p{\n text-align: center !important;\n font-weight: 600 !important;\n font-size: 20px !important;\n margin-bottom: 0 !important;\n color: #333 !important;\n}\n.cv-btn img{\n width: 100%;\n height: auto;\n}\n.cv-text{\n text-align: center;\n font-weight: 700;\n font-size: 1.8rem !important;\n margin-bottom: 0 !important;\n color: #d8436d;\n}\n\n@media screen and (max-width:500px){\n .cv-text{\n   font-size: 20px !important;\n }\n .cv-btn p{\n   font-size: 18px !important;\n }\n}\n<\/style>\n\n\n\n<div class=\"section-separator\">\n<div class=\"pc-only\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2024\/03\/couple-fv.jpg\" alt=\"\u592b\u5a66\u306e\u5199\u771fPC\"><\/div>\n<div class=\"sp-only\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2024\/03\/couple-mobile.jpg\" alt=\"\u592b\u5a66\u306e\u5199\u771fMOBILE\"><\/div>\n\n<h3>\u5efa\u8bae\u592b\u59bb\u6216\u4f34\u4fa3\u8003\u8651\u8fdb\u884c\u57fa\u56e0\u68c0\u6d4b<\/h3>\n\n<p>\u5728Hiro \u8bca\u6240\uff0c\u6211\u4eec\u5efa\u8bae\u592b\u59bb\u6216\u4f34\u4fa3\u8003\u8651\u8fdb\u884c228\u79cd\u9690\u6027\u9057\u4f20\u57fa\u56e0\u68c0\u6d4b\u3002\u901a\u8fc7\u8fd9\u9879\u68c0\u6d4b\uff0c\u60a8\u53ef\u4ee5\u4e86\u89e3\u5230\u5728\u5b69\u5b50\u51fa\u751f\u524d\u53ef\u80fd\u9057\u4f20\u7ed9\u5b69\u5b50\u7684\u75be\u75c5\u3002\u901a\u8fc7\u83b7\u53d6\u6709\u52a9\u4e8e\u672a\u6765\u5065\u5eb7\u548c\u5bb6\u5ead\u89c4\u5212\u7684\u4fe1\u606f\uff0c\u60a8\u53ef\u4ee5\u8ba1\u5212\u65e9\u671f\u7684\u9884\u9632\u548c\u652f\u6301\u63aa\u65bd\u3002<\/p>\n\n<h4>\u4f18\u70b9<\/h4>\n<p>\n<span class=\"pink-moji\">\u5168\u9762\u7684\u98ce\u9669\u8bc4\u4f30<\/span><br>\n\u6839\u636e\u592b\u59bb\u6216\u4f34\u4fa3\u7684\u57fa\u56e0\u4fe1\u606f\uff0c\u53ef\u4ee5\u5e7f\u6cdb\u8bc4\u4f30\u53ef\u80fd\u9057\u4f20\u7ed9\u5b69\u5b50\u7684\u75be\u75c5\uff0c\u5e76\u91c7\u53d6\u5fc5\u8981\u7684\u884c\u52a8\u3002\n<\/p>\n<p>\n<span class=\"pink-moji\">\u5bb6\u5ead\u89c4\u5212\u652f\u6301<\/span><br>\n\u5728\u672a\u6765\u7684\u5bb6\u5ead\u89c4\u5212\u4e2d\uff0c\u652f\u6301\u8003\u8651\u9057\u4f20\u98ce\u9669\u7684\u51b3\u7b56\u3002\n<\/p>\n<p>\n<span class=\"pink-moji\">\u9884\u9632\u63aa\u65bd\u7684\u4f18\u5316<\/span><br>\n\u6839\u636e\u7279\u5b9a\u7684\u9057\u4f20\u98ce\u9669\uff0c\u53ef\u4ee5\u8ba1\u5212\u4e2a\u6027\u5316\u7684\u9884\u9632\u63aa\u65bd\u548c\u65e9\u671f\u5e72\u9884\u3002\n<\/p>\n\n<div class=\"pc-only\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2024\/03\/baby-fv.jpg\" alt=\"\u8d64\u3061\u3083\u3093\u306e\u5199\u771fPC\"><\/div>\n<div class=\"sp-only\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2024\/03\/baby-mobile.jpg\" alt=\"\u8d64\u3061\u3083\u3093\u306e\u5199\u771fMOBILE\"><\/div>\n<h3>\u5efa\u8bae\u8003\u8651\u4e3a\u65b0\u751f\u513f\u8fdb\u884c\u57fa\u56e0\u68c0\u6d4b<\/h3>\n\n<p>\u4e3a\u65b0\u751f\u513f\u8fdb\u884c\u9690\u6027\u9057\u4f20\u57fa\u56e0\u68c0\u6d4b\u662f\u652f\u6301\u5b69\u5b50\u5065\u5eb7\u548c\u672a\u6765\u5e78\u798f\u7684\u4e00\u79cd\u624b\u6bb5\u3002\u901a\u8fc7\u8fd9\u9879\u68c0\u6d4b\uff0c\u60a8\u53ef\u4ee5\u53ca\u65e9\u4e86\u89e3\u9057\u4f20\u98ce\u9669\uff0c\u5e76\u5728\u5fc5\u8981\u65f6\u7acb\u5373\u5f00\u59cb\u9002\u5f53\u7684\u9884\u9632\u63aa\u65bd\u6216\u6cbb\u7597\u3002\u5728Hiro \u8bca\u6240\uff0c\u6211\u4eec\u4ee5\u5b69\u5b50\u7684\u5b89\u5168\u548c\u8212\u9002\u4e3a\u9996\u8981\u8003\u8651\uff0c\u63d0\u4f9b\u65e0\u75db\u7684\u68c0\u6d4b\u65b9\u6cd5\uff0c\u4ec5\u9700\u5c06\u6d4b\u8bd5\u68d2\u64e6\u62ed\u5728\u53e3\u8154\u9ecf\u819c\uff08\u5185\u4fa7\u988a\u90e8\uff09\u3002<\/p>\n\n<h4>\u4f18\u70b9<\/h4>\n<p>\n<span class=\"pink-moji\">\u65e9\u671f\u53d1\u73b0<\/span><br>\n\u5bf9228\u79cd\u9690\u6027\u9057\u4f20\u75be\u75c5\u8fdb\u884c\u7b5b\u67e5\uff0c\u53ca\u65e9\u53d1\u73b0\u53ef\u80fd\u5f71\u54cd\u5b69\u5b50\u5065\u5eb7\u7684\u6f5c\u5728\u98ce\u9669\u3002\n<\/p>\n<p>\n<span class=\"pink-moji\">\u4e2a\u6027\u5316\u5065\u5eb7\u7ba1\u7406<\/span><br>\n\u6839\u636e\u68c0\u6d4b\u7ed3\u679c\uff0c\u53ef\u4ee5\u8ba1\u5212\u9488\u5bf9\u5b69\u5b50\u7684\u7279\u5b9a\u5065\u5eb7\u7ba1\u7406\u548c\u6cbb\u7597\u3002\n<\/p>\n<p>\n<span class=\"pink-moji\">\u5bb6\u5ead\u5b89\u5fc3<\/span><br>\n\u901a\u8fc7\u83b7\u53d6\u5b69\u5b50\u5065\u5eb7\u72b6\u51b5\u7684\u660e\u786e\u4fe1\u606f\uff0c\u7f13\u89e3\u5bb6\u5ead\u7684\u62c5\u5fe7\u3002\n<\/p>\n<p>\n<span class=\"pink-moji\">Hiro \u8bca\u6240 NIPT\u53d7\u68c0\u8005\u7279\u522b\u9650\u5b9a\u4ef7\u683c<\/span><br>\n\u4e3a\u5728Hiro \u8bca\u6240\u63a5\u53d7NIPT\u68c0\u6d4b\u7684\u4eba\u63d0\u4f9b228\u79cd\u9690\u6027\u9057\u4f20\u57fa\u56e0\u68c0\u6d4b\u7684\u7279\u522b\u9650\u5b9a\u4ef7\u683c\u3002<br>\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/option\/?lang=zh-hans\">\u70b9\u51fb\u6b64\u5904\u4e86\u89e3\u66f4\u591a<\/a>\n<\/p>\n<p>\n<span class=\"pink-moji\">\u672a\u63a5\u53d7NIPT\u68c0\u6d4b\u7684\u4eba\u4e5f\u53ef\u653e\u5fc3<\/span><br>\n\u5373\u4f7f\u60a8\u672a\u5728Hiro \u8bca\u6240\u63a5\u53d7NIPT\u68c0\u6d4b\uff0c\u60a8\u4ecd\u53ef\u4f7f\u7528228\u79cd\u9690\u6027\u9057\u4f20\u57fa\u56e0\u68c0\u6d4b\u3002<br>\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene-checker\/lp\/recessive-inheritance\/?lang=zh-hans\">\u70b9\u51fb\u6b64\u5904\u4e86\u89e3\u66f4\u591a<\/a>\n<\/p>\n<\/div>\n\n\n<style>\n    .section-separator img{\n        margin: 0;\n        padding: 0;\n    }\n    .section-separator h3{\n        margin: 0;\n    }\n    .pink-moji {\n        color: #e54c84;\n        font-weight: bold;\n        font-style: 1.2rem;\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<section>\n    <h2>\u68c0\u67e5\u6d41\u7a0b<\/h2>\n    <div class=\"stepbar\">\n\n        <div class=\"stepbarwrap\">\n            <div class=\"steptitle\">\n                <span class=\"stepcircle\"><\/span>\n                <span class=\"stepnum\">step.1<\/span>\n            <\/div>\n            <div class=\"steptxt\">\n                <p class=\"title\">\u5728\u8bca\u6240\u7533\u8bf7\u8fdb\u884c\u68c0\u67e5<\/p>\n                <span class=\"txt\">\u5728\u7533\u8bf7\u65f6\u586b\u5199\u5b55\u5987\u548c\u4f34\u4fa3\u7684\u540c\u610f\u4e66\u3002<br>\u6211\u4eec\u4f1a\u5c06\u68c0\u67e5\u8bd5\u5242\u76d2\u53d1\u9001\u5230\u5bb6\u91cc (\u4ece\u6765\u533b\u9662\u5f00\u59cb1\u5468\u5de6\u53f3\u5230\u8fbe) \u3002<br>\u203b\u5b55\u5987\u548c\u4f34\u4fa3\u8bf7\u52a1\u5fc5\u4e00\u8d77\u6765\u533b\u9662\u3002<\/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\">step.2<\/span>\n            <\/div>\n            <div class=\"steptxt\">\n                <p class=\"title\">\u68c0\u67e5\u8bd5\u5242\u76d2\u4f1a\u5bc4\u9001\u5230\u60a8\u5bb6\u91cc<\/p>\n                <span class=\"txt\">\u68c0\u67e5\u8bd5\u5242\u76d2\u91cc\u6709\u5b55\u5987\u548c\u4f34\u4fa3\u4e13\u7528\u7684\u68c0\u67e5\u5957\u4ef6\u3002<\/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\">step.3<\/span>\n            <\/div>\n            <div class=\"steptxt\">\n                <p class=\"title\">\u8bf7\u81ea\u884c\u5728\u5bb6\u4e2d\u8fdb\u884c\u68c0\u67e5<\/p>\n                <span class=\"txt\">\u8bf7\u7528\u68c0\u67e5\u8bd5\u5242\u76d2\u7684\u6746\u5b50\u90e8\u5206\u64e6\u62ed\u53e3\u8154\u7c98\u819c (\u53e3\u8154\u5185\u7684\u988a\u90e8) \u6765\u91c7\u96c6\u7ec6\u80de\u3002<\/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\">step.4<\/span>\n            <\/div>\n            <div class=\"steptxt\">\n                <p class=\"title\">\u5bc4\u56de\u68c0\u67e5\u8bd5\u5242\u76d2<\/p>\n                <span class=\"txt\">\u8bf7\u5c06\u91c7\u96c6\u5230\u7684\u6837\u672c\u653e\u5165\u5bc4\u4ef6\u888b\u4e2d,\u5e76\u6295\u8fdb\u9644\u8fd1\u7684\u90ae\u7b52\u3002<\/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\">step.5<\/span>\n            <\/div>\n            <div class=\"steptxt\">\n                <p class=\"title\">\u56de\u62a5\u68c0\u67e5\u7ed3\u679c<\/p>\n                <span class=\"txt\">\u5927\u7ea61\u4e2a\u6708\u540e\uff0c\u4f1a\u901a\u8fc7\u90ae\u4ef6\u8fdb\u884c\u6c47\u62a5\u3002<br>\u203b\u4e0e\u901a\u8fc7\u5b55\u5987\u91c7\u96c6\u8840\u6837\u8fdb\u884c\u7684\u56fd\u5185\u68c0\u67e5\u662f\u5206\u5f00\u62a5\u544a\u7684\u3002<br>\u203b\u68c0\u67e5\u62a5\u544a\u7684\u7ed3\u679c\u5c06\u5728\u5bc4\u56de\u7684\u68c0\u67e5\u8bd5\u5242\u76d2\u62b5\u8fbe\u68c0\u67e5\u6240\u7ea61\u4e2a\u6708\u540e\u53cd\u9988\u3002<\/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>228\u79cd\u9690\u6027\u57fa\u56e0\u68c0\u6d4b\u7684<br class=\"sp-only\">\u53ef\u9009\u8d39\u7528<\/h2>\n   <div class=\"button_moji\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/option\/?lang=zh-hans\">\u67e5\u770b\u53ef\u9009\u8d39\u7528<\/a><\/div>\n<\/div>\n    \n<div class=\"box_content\" style=\"text-align:center;\">\n    <div class=\"image-container\">\n        <img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/10\/228-gen-zh-hans_3x.webp\">\n        <img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/10\/asd-gen-zh-hans_3x.webp\">\n    <\/div>\n<\/div>\n   \n<style>\n    .button_moji {\n        font-weight: 700;\n        font-size: 1.6rem;\n        text-align: center;\n        color: #e54c84;\n        background-color: #fff;\n        border-bottom: 5px solid #e54c84;\n        width: 60%;\n        margin: 0 auto;\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    .small-image {\n        width: 100%;\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<h2 class=\"wp-block-heading\"><strong>\u9690\u6027\u9057\u4f20\u75c5\u7684\u53d1\u75c5\u673a\u5236<\/strong><\/h2>\n\n\n\n<p>\u4eba\u7c7b\u6709\u4e24\u6761\u67d3\u8272\u4f53\uff0c\u4e00\u6761\u6765\u81ea\u6bcd\u4eb2\uff0c\u53e6\u4e00\u6761\u6765\u81ea\u7236\u4eb2\u3002<\/p>\n\n\n\n<p>\u9690\u6027\u9057\u4f20\u75be\u75c5\u662f\u6307\u5728\u4e24\u6761\u67d3\u8272\u4f53\u7684\u76f8\u540c\u90e8\u4f4d\u51fa\u73b0\u5f02\u5e38\u800c\u5bfc\u81f4\u7684\u75be\u75c5\u3002\u5982\u679c\u6bcd\u4eb2\u6216\u7236\u4eb2\u7684\u5176\u4e2d\u4e00\u6761\u67d3\u8272\u4f53\u5f02\u5e38,\u800c\u53e6\u4e00\u6761\u67d3\u8272\u4f53\u6ca1\u6709\u5f02\u5e38,\u5219\u4e0d\u4f1a\u51fa\u73b0\u75c7\u72b6\u3002\u5728\u8fd9\u79cd\u60c5\u51b5\u4e0b,\u8be5\u4e2a\u4f53\u88ab\u79f0\u4e3a\u76f8\u5e94\u9057\u4f20\u75be\u75c5\u7684\u643a\u5e26\u8005\u3002<\/p>\n\n\n\n<p>\u81ea\u53e4\u4ee5\u6765\u5c31\u6709\u300c\u8fd1\u4eb2\u4e4b\u95f4\u4e0d\u53ef\u751f\u80b2\u5c0f\u5b69\u300d \u8fd9\u6837\u7684\u8bf4\u6cd5,\u4e5f\u5c31\u662f\u8fd9\u4e2a\u539f\u56e0\u3002<\/p>\n\n\n\n<p>\u4e3e\u4f8b\u6765\u8bf4,\u5982\u679c\u4f60\u6709\u4e00\u79cd\u7f55\u89c1\u7684\u75be\u75c5,\u6bcf4\u4e07\u4eba\u4e2d\u53ea\u67091\u4eba\u4f1a\u53d1\u75c5,\u90a3\u4e48\u8be5\u75be\u75c5\u7684\u643a\u5e26\u8005\u4f30\u8ba1\u662f\u6bcf100\u4eba\u4e2d\u5c31\u67091\u4eba\u3002<\/p>\n\n\n\n<p>\u8fd9\u662f\u56e0\u4e3a\u8ba1\u7b97\u662f\u300c1\/100\u00d71\/4=40,000\u4eba\u4e4b\u4e00\u300d \u3002<\/p>\n\n\n\n<p>\u7814\u7a76\u6bcf4\u4e07\u4eba\u4e2d\u67091\u4eba\u60a3\u6709100\u4f8b\u75be\u75c5,\u8fd9\u610f\u5473\u7740\u7406\u8bba\u4e0a<strong><strong>\u6bcf\u4e2a\u4eba\u90fd\u53ef\u80fd\u662f\u67d0\u79cd\u75be\u75c5\u7684\u643a\u5e26\u8005<\/strong><\/strong>\u3002<\/p>\n\n\n\n<p>\u90a3\u4e48\uff0c\u5982\u679c\u5728\u672c\u9662\u7684\u68c0\u67e5\u4e2d\u53d1\u73b0\u53cc\u4eb2\u7684\u9057\u4f20\u57fa\u56e0\u76f8\u540c\u7684\u5730\u65b9\u6709\u5f02\u5e38\u7684\u60c5\u51b5\u4e0b\u4f1a\u600e\u4e48\u6837\u5462?<\/p>\n\n\n\n<p>\u7b54\u6848\u662f<\/p>\n\n\n\n<div style=\"border: 1px dotted #e54c84; padding: 1rem 2rem; max-width: 400px; margin-bottom: 1rem;\">\n    <ul>\n      <li>\u6bcf4\u4e2a\u4eba\u4e2d\u5c31\u67091\u4e2a\u80ce\u513f\u53d1\u75c5\u3002<\/li>\n      <li>\u6bcf2\u4e2a\u4eba\u4e2d\u5c31\u67091\u4e2a\u6210\u4e3a\u643a\u5e26\u8005\u3002<\/li>\n      <li>\u6bcf4\u4e2a\u4eba\u4e2d\u5c31\u67091\u4e2a\u662f\u5065\u5eb7\u4e2a\u4f53\u3002<\/li>\n    <\/ul>\n  <\/div>\n\n\n\n<p>\u8981\u8c03\u67e5\u90a3\u4e2a,\u600e\u4e48\u505a\u6bd4\u8f83\u597d?<\/p>\n\n\n\n<p><strong>\u73b0\u9636\u6bb5\u6700\u6b63\u786e\u7684\u662f\u7f8a\u6c34\u68c0\u67e5\u3002<\/strong><\/p>\n\n\n\n<p>\u68c0\u67e5\u9057\u4f20\u56e0\u5b50\u7684\u6700\u6b63\u786e\u7684\u65b9\u6cd5\u4e4b\u4e00\u5c31\u662f\u7f8a\u6c34\u68c0\u67e5\u3002\u8fd9\u9879\u68c0\u67e5\u662f\u901a\u8fc7\u5bf9\u7f8a\u6c34\u4e2d\u80ce\u513f\u7684\u7ec6\u80de\u91cc\u7684\u9057\u4f20\u57fa\u56e0\u8fdb\u884c\u5206\u6790\u3002\u4e1c\u4eac\u536b\u751f\u68c0\u67e5\u6240\u548c\u585e\u6d66\u8def\u65af\u7684Medicover\u516c\u53f8\u5171\u540c\u8fdb\u884c\u4e86\u8fd9\u9879\u5206\u6790\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u52a0\u5165\u7f8a\u6c34\u68c0\u67e5\u652f\u63f4\u7684\u8bdd,\u4e00\u822c\u6765\u8bf4\u4e0d\u523020\u4e07\u65e5\u5143\u5c31\u53ef\u4ee5\u8fdb\u884c\u68c0\u67e5,\u6240\u4ee5\u4e0d\u9700\u8981\u627f\u62c5\u8d39\u7528\u3002<br>\u5982\u679c\u8981\u505a\u7f8a\u6c34\u68c0\u67e5,\u8bf7\u54a8\u8be2Hiro\u8bca\u6240\u3002<\/p>\n\n\n\n<p>\u4e0b\u9762\u5217\u51fa\u4e86228\u79cd\u9690\u6027\u9057\u4f20\u75be\u75c5\u3002<\/p>\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\">\n<h2 class=\"wp-block-heading\">\u4eceHiro\u8bca\u6240NIPT\u5f97\u77e5\u7684<br>\u9690\u6027\u9057\u4f20\u75c5<\/h2>\n<\/div><\/div>\n\n\n\n<div class=\"disease_list_holder\">\n    <table class=\"disease_list\">\n        <tr>\n            <th>\u75be\u75c5\u540d\u79f0<\/th>\n            <th>\u75be\u75c5\u540d\u79f0 EN<\/th>\n            <th>\u53ef\u5728\u672c\u9662\u8c03\u67e5\u7684\u57fa\u56e0<\/th>\n            <th>\u51fa\u73b0\u67d3\u8272\u4f53<\/th>\n            <th>\u66f4\u591a\u4fe1\u606f<\/th>\n        <\/tr>\n        <tr>\n            <td>3-\u7f9f\u57fa-3-\u7532\u57fa\u620a\u4e8c\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>Leydig\u7ec6\u80de\u53d1\u80b2\u4e0d\u826f (\u4fc3\u9ec4\u4f53\u6fc0\u7d20\u62b5\u6297)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>3-\u7532\u57fa\u6c2f\u4ee3\u57fa\u8f85\u9176A\u7fa7\u5316\u9176\u7f3a\u4e4f\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u80a2\u5e26\u578b\u808c\u8425\u517b\u4e0d\u826fIIE\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u590d\u5408\u7fa7\u5316\u9176\u7f3a\u4e4f\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u4e8c\u6c22\u8102\u9170\u80fa\u8131\u6c22\u9176\u7f3a\u4e4f\u75c7 (\u67ab\u7cd6\u6d46\u5c3fIII\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8102\u86cb\u767d\u8102\u9176\u7f3a\u4e4f\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8fc7\u6c27\u5316\u7269\u9176\u4f53\u9170\u57fa\u8f85\u9176A\u6c27\u5316\u9176\u7f3a\u4e4f\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5965\u95e8\u7efc\u5408\u75c7 (RAG2\u76f8\u5173)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u795e\u7ecf\u68d8\u7ea2\u7ec6\u80de\u589e\u591a\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\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9e1f\u6c28\u9178\u6c28\u57fa\u8f6c\u79fb\u9176\u7f3a\u4e4f\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>X\u8fde\u9501\u8109\u7edc\u819c\u79ef\u8840<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9ad8\u9e1f\u6c28\u9178\u8840\u75c7-\u9ad8\u6c28\u8840\u75c7-\u9ad8\u74dc\u6c28\u9178\u8840\u75c7 (HHH) \u7efc\u5408\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u80f1\u6c28\u9178\u7f3a\u4e4f\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u65c1\u6c0f\u7efc\u5408\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u590d\u5408\u6c27\u5316\u78f7\u9178\u5316\u7f3a\u4e4f\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u585e\u5c14\u7ef4\u683c\u9891\u8c31\u7efc\u5408\u75c7 (PEX1)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>I\u578b\u5148\u5929\u6027\u7cd6\u57fa\u5316\u5f02\u5e38 (PMM2\u76f8\u5173)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u585e\u5c14\u7ef4\u683c\u9891\u8c31\u7efc\u5408\u75c7 (PEX2)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9057\u4f20\u6027\u679c\u7cd6\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9f50\u5c14\u97e6\u683c\u7efc\u5408\u75c7 (PEX1)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9ad8\u80f1\u6c28\u9178\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>X\u8fde\u9501\u4e25\u91cd\u8054\u5408\u514d\u75ab\u7f3a\u9677<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6c34\u51dd\u86cb\u767d\u7efc\u5408\u75c7<\/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\/?lang=zh-hans\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9570\u72b6\u7ec6\u80de\u75c5<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>II\u578b\u5305\u6db5\u4f53\u808c\u75c5 (GNE\u808c\u75c5)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6c99\u683c\u4f26\u00b7\u62c9\u5c14\u68ee\u7efc\u5408\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5f02\u620a\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u53d1\u6027\u80be\u75c5\u7efc\u5408\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7532\u57fa\u4e19\u4e8c\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u65bd\u74e6\u8328\u00b7\u626c\u4f69\u5c14\u7efc\u5408\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7532\u57fa\u4e19\u4e8c\u9178\u8840\u75c7\u4f34\u9ad8\u80f1\u6c28\u9178\u5c3f\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5df4\u5c14\u5fb7\u65af-\u6bd4\u5fb7\u5c14\u7efc\u5408\u75c7 (BBS12\u76f8\u5173)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7c98\u591a\u7cd6II\u578b(\u4ea8\u7279\u7efc\u5408\u75c7, X\u8fde\u9501\u578b)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u03b2\u5730\u4e2d\u6d77\u8d2b\u8840<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7c98\u591a\u7cd6III\u578b (\u5723\u83f2\u5229\u666e\u7efc\u5408\u75c7)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u751f\u7269\u7d20\u9176\u7f3a\u4e4f\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u591a\u786b\u9178\u9176\u7f3a\u4e4f\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5361\u7eb3\u90a6\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u53d1\u6027\u7ea4\u6bdb\u8fd0\u52a8\u969c\u788d (\u4e0eDNAH5\u76f8\u5173)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5361\u5f6d\u7279\u7efc\u5408\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u53d1\u6027\u7ea4\u6bdb\u8fd0\u52a8\u969c\u788d (\u4e0eDNAI1\u76f8\u5173)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7cd6\u539f\u75c5I\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u53d1\u6027\u9ad8\u8349\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7cd6\u539f\u75c5I\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9aa8\u5bc6\u5ea6\u589e\u539a<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7cd6\u539f\u75c5III\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u4e19\u916e\u9178\u8131\u6c22\u9176\u7f3a\u4e4f\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u57c3\u5361\u8fea-\u53e4\u8482\u57c3\u5c14\u7efc\u5408\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u683c\u96f7\u897f\u5c14\u7efc\u5408\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u963f\u5c14\u6ce2\u7279\u7efc\u5408\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u957f\u94fe3-\u7f9f\u57fa\u9170\u8f85\u9176A\u8131\u6c22\u9176\u7f3a\u4e4f\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u963f\u5c14\u65af\u7279\u4f26\u7efc\u5408\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8d56\u6c28\u9178\u5c3f\u86cb\u767d\u4e0d\u8010\u53d7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5b89\u5fb7\u66fc\u6c0f\u7efc\u5408\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u67ab\u7cd6\u6d46\u5c3fIB\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u82b3\u9999\u9176\u7f3a\u4e4f\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7532\u57fa\u4e19\u4e8c\u9178\u8840\u75c7 (MMAA\u76f8\u5173)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u4e25\u91cd\u5148\u5929\u6027\u4e2d\u6027\u7c92\u7ec6\u80de\u51cf\u5c11 (HAX1\u76f8\u5173)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u514b\u91cc\u683c\u52d2-\u7eb3\u6770\u7efc\u5408\u75c7I\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9f50\u5c14\u97e6\u683c\u7efc\u5408\u75c7 (PEX2)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u56ca\u6027\u7ea4\u7ef4\u5316<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u82ef\u4e19\u916e\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>XI\u56e0\u5b50\u7f3a\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8111\u6865\u5c0f\u8111\u53d1\u80b2\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5bb6\u65cf\u6027\u81ea\u4e3b\u795e\u7ecf\u5931\u8c03\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8111\u6865\u5c0f\u8111\u53d1\u80b2\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6731\u8d1d\u5c14\u7efc\u5408\u75c7\u76f8\u5173\u75be\u75c5<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8111\u6865\u5c0f\u8111\u53d1\u80b2\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5927\u75b1\u6027\u7ed3\u8282\u6027\u8868\u76ae\u677e\u89e3\u75c7 (\u8d6b\u5c14\u5229\u5179\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6cf0\u8428\u514b\u65af\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u53f6\u72b6\u9c7c\u9cde\u75c5I\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u963f\u820d\u7efc\u5408\u75c71F\u578b<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>Label\u5148\u5929\u6027\u767d\u5185\u969c (LCA5\u76f8\u5173)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u963f\u820d\u7efc\u5408\u75c7\u7c7b\u578b3<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>Lee\u8111\u75c7 (\u6cd5\u56fd-\u52a0\u62ff\u5927\u7c7b\u578b)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6c83\u5c14\u66fc\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>X\u8fde\u9501\u808c\u7ba1\u808c\u75c5<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7532\u57fa\u620a\u4e8c\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7eb3\u74e6\u970d\u795e\u7ecf\u809d\u75c5 (\u4e0eMPV17\u76f8\u5173\u7684\u809d\u8111\u7ebf\u7c92\u4f53DNA\u8017\u5c3d\u7efc\u5408\u75c7)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u65e0\u03b2\u8102\u86cb\u767d\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6025\u6027\u5a74\u5e7c\u513f\u809d\u8870\u7aed (TRMU\u76f8\u5173)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u795e\u7ecf\u6027\u767d\u7ec6\u80de\u4ecb\u7d20\u6c89\u79ef\u75c7 (CLN8\u76f8\u5173)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7cbe\u6c28\u7425\u73c0\u9178\u88c2\u89e3\u9176\u7f3a\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u795e\u7ecf\u7532\u72b6\u817a\u7d20\u8840\u75c7 (MFSD8\u76f8\u5173)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5171\u6d4e\u5931\u8c03\u6bdb\u7ec6\u7ba1\u6269\u5f20\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u795e\u7ecf\u7532\u72b6\u817a\u7d20\u8840\u75c7 (TPP1\u76f8\u5173)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u590f\u5c14\u6ce2\u74e6\u00b7\u8428\u683c\u5185\u7684\u5e38\u67d3\u8272\u4f53\u9690\u6027\u75c9\u631b\u6027\u5171\u6d4e\u5931\u8c03<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/?lang=zh-hans\">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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5948\u7c73\u4ea8\u67d3\u8272\u4f53\u4e0d\u7a33\u5b9a\u7efc\u5408\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u53d1\u6027\u514d\u75ab\u7f3a\u9677\u7efc\u5408\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u89c6\u7f51\u819c\u8425\u517b\u4e0d\u826f<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7ebf\u7c92\u4f53<\/td>\n            <td><a href=\"https:\/\/jglobal.jst.go.jp\/detail?JGLOBAL_ID=201202267255981122\">Combined Oxidative Phosphorylation Deficiency 1, GFM1<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u82ac\u5170\u578b\u5148\u5929\u6027\u80be\u75c5\u7efc\u5408\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u89c6\u7f51\u819c\u8272\u7d20\u53d8\u6027-25<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u808c\u65e0\u529b\u7efc\u5408\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/3997\">Congenital Myasthenic Syndrome (RAPSN-related), RAPSN<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u89c6\u7f51\u819c\u8272\u7d20\u53d8\u6027-59<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u89d2\u819c\u5185\u76ae\u8425\u517b\u4e0d\u826f<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6851\u83f2\u5229\u6ce2\u7efc\u5408\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8111\u808c\u9178\u7f3a\u4e4f\u7efc\u5408\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u4e25\u91cd\u8054\u5408\u514d\u75ab\u7f3a\u9677 (\u963f\u8428\u5df4\u65af\u5361\u578b)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u80f1\u6c28\u9178 (\u80f1\u6c28\u9178\u75c5)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7531SLC35A3\u7a81\u53d8\u5f15\u8d77\u7684\u5173\u8282\u631b\u7f29\u3001\u7cbe\u795e\u53d1\u80b2\u8fdf\u6ede\u548c\u53d1\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>Emery-Dreifuss \u578b\u808c\u8425\u517b\u4e0d\u826f<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5929\u51ac\u9170\u80fa\u5408\u6210\u9176\u7f3a\u4e4f<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6cd5\u5e03\u91cc\u75c5\uff0cX\u8fde\u9501<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5929\u51ac\u6c28\u9170\u6c28\u57fa\u8461\u8404\u7cd6\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5bb6\u65cf\u6027\u5730\u4e2d\u6d77\u70ed<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\u6027\u591a\u56ca\u80be<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u534a\u4e73\u7cd6-1-\u78f7\u9178\u5c3f\u9170\u8f6c\u79fb\u9176\u7f3a\u4e4f\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>Barde-Bedor\u7efc\u5408\u75c7 (\u4e0eBBS1\u76f8\u5173)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9057\u4f20\u6027\u8840\u8272\u75c5<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8303\u53ef\u5c3c\u8d2b\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u773c\u76ae\u80a4\u767d\u5316\u75c5<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8303\u53ef\u5c3c\u8d2b\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u4f4e\u78f7\u9178\u9176\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u78f7\u9178\u7518\u6cb9\u9178\u8131\u6c22\u9176\u7f3a\u4e4f\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6208\u8c22\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u620a\u4e8c\u9178\u8840\u75c7IIA\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u975e\u916e\u75c7\u578b\u9ad8\u7518\u6c28\u9178\u8840\u75c7 (\u7518\u6c28\u9178\u8111\u75c5)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u767d\u8d28\u6d88\u5931\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n    <\/table>\n\n    <table class=\"disease_list\">\n        <tr>\n            <th>\u75be\u75c5\u540d\u79f0<\/th>\n            <th>\u75be\u75c5\u540d\u79f0 EN<\/th>\n            <th>\u53ef\u5728\u672c\u9662\u8c03\u67e5\u7684\u57fa\u56e0<\/th>\n            <th>\u66f4\u591a\u4fe1\u606f<\/th>\n        <\/tr>\n        <tr>\n            <td>\u81ea\u8eab\u514d\u75ab\u6027\u591a\u5185\u5206\u6ccc\u817a\u7efc\u5408\u75c71\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7b56\u5c14\u97e6\u683c\u6c0f\u7efc\u5408\u75c7<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u80f6\u6837\u6ef4\u72b6\u89d2\u819c\u8425\u517b\u4e0d\u826f<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u76f8\u5173\u590d\u5408\u6027\u5782\u4f53\u6fc0\u7d20\u7f3a\u4e4f\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u5de8\u7ed3\u80a0<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u53d1\u6027\u776b\u72b6\u4f53\u8fd0\u52a8\u969c\u788d\u3001DNAI1\u5173\u8054\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u4eba\u7cbe\u6c28\u9178\u7425\u73c0\u9178\u916f\u5408\u6210\u9176<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u53d1\u9ad8\u8349\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u7cd6\u57fa\u5316\u5f02\u5e38<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u4e19\u916e\u9178\u8131\u6c22\u9176\u590d\u5408\u7269\u7f3a\u4e4f\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u65e0\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u89c6\u7f51\u819c\u75c5\u53d8 (\u4e0eRLBP1\u76f8\u5173)\uff3bBothnia Retinal Dystrophy\uff3d<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u919b\u56fa\u916e\u5408\u6210\u9176\u7f3a\u4e4f\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u89c6\u7f51\u819c\u8272\u7d20\u53d8\u6027\u75c5 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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>D-\u53cc\u5934\u9176 (DBP) \u7f3a\u4e4f\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>1\u578b\u7a7f\u5b54\u6027\u8f6f\u9aa8\u53d1\u80b2\u4e0d\u826f\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5927\u75b1\u6027\u8868\u76ae\u677e\u89e3\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8428\u62c9\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6fd1\u5ddd\u7efc\u5408\u75c7, (\u4e0eTH\u76f8\u5173)<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u53d8\u5f02\u76f8\u5173\u89c6\u7f51\u819c\u53d8\u6027<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9570\u72b6\u7ea2\u7ec6\u80de\u75c5<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>IX\u56e0\u5b50\u7f3a\u4e4f\u75c7, X\u8fde\u9501<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6cf0\u8428\u514b\u65af\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u80be\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5a01\u5c14\u900a\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u808c\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u75b1\u75b9\u578b\u7ed3\u8282\u6027\u5927\u75b1\u6027\u8868\u76ae\u677e\u89e3\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><\/td>\n        <\/tr>\n        <tr>\n            <td>PTPS\u7f3a\u4e4f\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\/?lang=zh-hans\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>1\u578b\u5c42\u72b6\u9c7c\u9cde\u75c5<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u8272\u76f2 (\u4e0eCNGB3\u76f8\u5173)<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/?lang=zh-hans\">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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u674e\u6c0f\u7efc\u5408\u75c7\u3001\u6cd5\u88d4\u52a0\u62ff\u5927\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u80be\u4e0a\u817a\u8111\u767d\u8d28\u8425\u517b\u4e0d\u826f<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>2A\u578b \u56db\u80a2\u808c\u8425\u517b\u4e0d\u826f<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u963f\u5c14\u6ce2\u7279\u7efc\u5408\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u80a2\u5e26\u578b\u808c\u8425\u517b\u4e0d\u826f\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7ef4\u751f\u7d20E\u7f3a\u4e4f\u75c7\u76f8\u5173\u7684\u8fd0\u52a8\u969c\u788d<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8102\u8d28\u80be\u4e0a\u817a\u589e\u751f\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5df4\u817e\u75c5 (\u4e0eCLN3\u76f8\u5173)<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u4e2d\u94fe\u9170\u57fa\u8f85\u9176A\u8131\u6c22\u9176\u7f3a\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5e03\u5362\u59c6 (Bloom) \u7efc\u5408\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5f02\u67d3\u6027\u8111\u767d\u8d28\u9000\u5316\u75c7 (PSAP\u76f8\u5173)<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8089\u6bd2\u78b1\u68d5\u6988\u9170\u8f6c\u79fb\u9176II\u7f3a\u4e4f\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7532\u57fa\u4e19\u4e8c\u9178\u5c3f\u75c7\u3001\u9ad8\u80f1\u6c28\u9178\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8111\u8171\u9ec4\u7624\u75c5<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5c0f\u773c\u7403\u75c7\/\u65e0\u773c\u7403\u75c7 (VSX2\u76f8\u5173)<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6162\u6027\u8089\u82bd\u80bf\u75c5<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7ebf\u7c92\u4f53\u590d\u5408\u72691\u7f3a\u4e4f\u75c7 (NDUFS6\u76f8\u5173),<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u4e19\u4e8c\u9178\u5c3f\u75c7\u548c\u7532\u57fa\u4e19\u4e8c\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6eb6\u9176\u4f53\u75c5 (\u9ecf\u9644\u75c5III\u578b)<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7c98\u591a\u7cd6\u75c7IIIB\u578b\uff3bSanfilippo B\uff3d<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>PROP1\u76f8\u5173\u7684\u590d\u5408\u5782\u4f53\u6fc0\u7d20\u7f3a\u4e4f\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6eb6\u9176\u4f53\u75c5(\u9ecf\u591a\u7cd6IX\u578b\u3001\u900f\u660e\u8d28\u9178\u9176\u7f3a\u4e4f\u75c7)<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027N-\u7ed3\u5408\u7cd6\u57fa\u5316\u901a\u8def\u5f02\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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u808c\u65e0\u529b\u7efc\u5408\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u795e\u7ecf\u6027\u767d\u7ec6\u80de\u4ecb\u7d20\u6c89\u79ef\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9178\u6027\u9798\u78f7\u8102\u9176\u7f3a\u4e4f\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u4e2d\u6027\u7c92\u7ec6\u80de\u51cf\u5c11<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7ebf\u7c92\u4f53\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><\/td>\n        <\/tr>\n        <tr>\n            <td>CRB1\u76f8\u5173\u89c6\u7f51\u819c\u75c5\u53d8<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7ea4\u6bdb\u529f\u80fd\u969c\u788d\u7efc\u5408\u75c7<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5931\u806a,\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f2077<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/?lang=zh-hans\">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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u4e19\u916e\u9178\u8131\u6c22\u9176\u590d\u5408\u7269\u7f3a\u4e4f\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u57c3\u62c9\u65af\u00b7\u4e39\u7f57\u65af\u7efc\u5408\u75c7<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u89c6\u7f51\u819c\u8272\u7d20\u53d8\u6027\u75c5<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u4e59\u57fa\u4e19\u4e8c\u9178\u8111\u75c5<\/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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/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><\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6851\u5fb7\u970d\u592b\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5bb6\u65cf\u6027\u9ad8\u80c6\u56fa\u9187\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9ad8\u916a\u6c28\u9178\u8840\u75c71\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u534a\u4e73\u6fc0\u9176\u7f3a\u4e4f\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5c24\u585e\u6c0f\u7efc\u5408\u75c7<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u620a\u4e8c\u9178\u8840\u75c71\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u89c6\u7f51\u819c\u5206\u79bb\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u975e\u916e\u75c7\u578b\u9ad8\u7518\u6c28\u9178\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u808c\u8089\u8425\u517b\u4e0d\u826f<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>II\u578b\u7cd6\u539f\u7d2f\u79ef\u75c5 (Ponpe\u75c5)<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5de8\u5934\u6027\u767d\u8d28\u8111\u75c5\u4f34\u76ae\u8d28\u4e0b\u56ca\u80bf\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><\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7ebf\u7c92\u4f53\u590d\u5408\u72691\u7f3a\u4e4f\u75c7 (ACAD9\u76f8\u5173)<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9752\u5c11\u5e74\u8840\u8272\u75c5<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7ebf\u7c92\u4f53\u808c\u75c5\u548c\u94c1\u7c92\u5e7c\u7ec6\u80de\u6027\u8d2b\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8d6b\u5c14\u66fc\u65af\u57fa-\u5e15\u5fb7\u62c9\u514b\u7efc\u5408\u75c71<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9ecf\u8102\u8d28\u75c7\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9ad8\u80f1\u6c28\u9178\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><\/td>\n        <\/tr>\n        <tr>\n            <td>N-\u4e59\u9170\u8c37\u6c28\u9178\u5408\u9176\u7f3a\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u65e0\u6c57\u6027\u5916\u80da\u5c42\u53d1\u80b2\u4e0d\u5168<\/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><\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u514b\u83b1\u4f2f\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u975e\u7efc\u5408\u75c7\u542c\u529b\u635f\u5931 (GJB2\u76f8\u5173,GJB6\u76f8\u5173)<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/?lang=zh-hans\">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\/\">\u4e86\u89e3\u66f4\u591a\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u7684\u4fe1\u606f<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>Label\u9057\u4f20\u6027\u89c6\u795e\u7ecf\u75c5\u53d8<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9e1f\u6c28\u9178\u6c28\u57fa\u8f6c\u79fb\u9176\u7f3a\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u80a2\u5e26\u578b\u808c\u840e\u7f29\u75c7<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u82ef\u4e19\u916e\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u4e8c\u6c22\u8102\u9170\u80fa\u8131\u6c22\u9176\u7f3a\u4e4f\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u53d1\u6027\u9ad8\u8349\u9178\u5c3f\u75c7I\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><\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u80be\u5c0f\u7ba1\u6027\u9178\u4e2d\u6bd2\u548c\u542c\u529b\u635f\u5931 (ATP6V1B1-\u76f8\u5173)\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8339\u8d1d\u5c14\u7efc\u5408\u75c7\u76f8\u5173\u75be\u75c5<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>X\u8fde\u9501\u89c6\u7f51\u819c\u8272\u7d20\u53d8\u5f02\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5f02\u67d3\u6027\u767d\u8d28\u8425\u517b\u4e0d\u826f<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7f57\u4f2f\u8328\u7efc\u5408\u75c7<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7532\u57fa\u4e19\u4e8c\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><\/td>\n        <\/tr>\n        <tr>\n            <td>Simuke\u514d\u75ab\u6027\u9aa8\u53d1\u80b2\u4e0d\u826f<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7532\u57fa\u4e19\u4e8c\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u53f2\u5bc6\u65af-\u83b1\u59c6\u5229-\u5965\u76ae\u8328\u7efc\u5408\u75c7\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7ebf\u7c92\u4f53\u590d\u5408\u7269I\u7f3a\u4e4f<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>Stuve-Wiedemann\u7efc\u5408\u75c7<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7c98\u9644\u75c5III\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5c24\u585e\u6c0f\u7efc\u5408\u75c7\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7ebf\u7c92\u4f53\u795e\u7ecf\u80c3\u80a0\u75c5<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u585e\u5c14\u7ef4\u683c\u9891\u8c31\u969c\u788d\u3001\uff08PEX6\u76f8\u5173\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7eb3\u74e6\u970d\u795e\u7ecf\u809d\u75c5 [MPV 17\u76f8\u5173\u809d\u7ec6\u80de\u7ebf\u7c92\u4f53DNA\u7f3a\u5931\u7efc\u5408\u75c7]<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u585e\u5c14\u7ef4\u683c\u9891\u8c31\u6545\u969c (\u4e0ePEX 10\u76f8\u5173)\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><\/td>\n        <\/tr>\n        <tr>\n            <td>CLN5\u75be\u75c5<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u795e\u7ecf\u6027\u767d\u7ec6\u80de\u4ecb\u7d20\u6c89\u79ef\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5c3c\u66fc\u76ae\u514b\u75c5\uff0cC2\u578b\uff0cNPC2\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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5965\u591a\u00b7\u5965\u5c3c\u79d1\u00b7\u76ae\u80a4\u5f02\u5e38\u589e\u751f\u75c7\u00b7\u201c\u5965\u591a\u00b7\u5965\u5c3c\u79d1\u00b7\u76ae\u80a4\u5f02\u5e38\u589e\u751f\u75c7\u201d\u00b7\u8212\u666e\u592b\u00b7\u8212\u5c14\u8328\u00b7\u5e15\u585e\u7efc\u5408\u75c7<\/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><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9e1f\u6c28\u9178\u8f6c\u6c28\u7532\u9170\u9176\u7f3a\u4e4f\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><\/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<h2 class=\"wp-block-heading\"><strong>Hiro\u8bca\u6240\u7684\u9690\u6027\u9057\u4f20\u75c5\u662f\u4ec0\u4e48<\/strong><\/h2>\n\n\n\n<p>\u5728Hiro \u8bca\u6240\uff0c\u6211\u4eec\u53ef\u4ee5\u5bf9228\u79cd\u4e0e\u4e25\u91cd\u52a3\u6027\u9057\u4f20\u75be\u75c5\u76f8\u5173\u7684\u57fa\u56e0\u8fdb\u884c\u68c0\u6d4b\u3002\u8be5\u68c0\u6d4b\u901a\u8fc7\u91c7\u96c6\u6bcd\u4eb2\u548c\u7236\u4eb2\u7684\u53e3\u8154\u9ecf\u819c\u7ec6\u80de\u6765\u63d0\u53d6\u548c\u5206\u6790\u57fa\u56e0\uff0c\u5e76\u6839\u636e\u6bcd\u4eb2\u548c\u7236\u4eb2\u7684\u9057\u4f20\u4fe1\u606f\u6765\u68c0\u6d4b\u80ce\u513f\u662f\u5426\u5b58\u5728\u60a3\u6709\u4e25\u91cd\u9057\u4f20\u75be\u75c5\u7684\u98ce\u9669\u3002<\/p>\n\n\n\n<p>\u5c3d\u7ba1\u4e25\u91cd\u7684\u9057\u4f20\u75be\u75c5\u975e\u5e38\u7f55\u89c1,\u4f46\u5373\u4fbf\u662f\u6bcf40,000\u4eba\u4e2d\u5c31\u67091\u4f8b\u9690\u6027\u9057\u4f20\u75be\u75c5,\u5176\u643a\u5e26\u8005 (\u4e24\u6761\u67d3\u8272\u4f53\u4e2d\u6709\u4e00\u6761\u5f02\u5e38\u4f46\u672a\u53d1\u75c5\u7684\u4e2a\u4f53) \u4e5f\u53ef\u80fd\u8fbe\u5230\u6bcf100\u4eba\u4e2d\u5c31\u67091\u4eba\u3002<\/p>\n\n\n\n<p>Hiro \u8bca\u6240\u8ba4\u4e3a\u6709\u7528\u7684\u68c0\u67e5\u53ef\u4ee5\u8bc6\u522b\u643a\u5e26\u8005\u57fa\u56e0,\u5e76\u901a\u8fc7\u5176\u7ec4\u5408\u5224\u65ad\u662f\u5426\u4e0e228\u79cd\u9690\u6027\u9057\u4f20\u75c5\u76f8\u5173\u3002<\/p>\n\n\n\n<p>\u8fd9\u9879\u68c0\u67e5\u7684\u7279\u70b9\u662f<span class=\"underline\" style=\"text-decoration: 5px underline #ffff66; text-underline-offset: -1px; font-weight: 700; color: #e54c84;\">\u80fd\u591f\u67e5\u51fa\u8fc4\u4eca\u4e3a\u6b62\u88ab\u8ba4\u4e3a\u662f\u9057\u4f20\u5f02\u5e38\u7684\u6240\u6709\u9057\u4f20\u57fa\u56e0\u7ec4\u5408,\u5e76\u5224\u65ad\u9057\u4f20\u57fa\u56e0\u7684\u53d8\u5316\u662f\u5426\u771f\u7684\u5177\u6709\u81f4\u75c5\u6027<\/span>\u3002   <\/p>\n\n\n\n<p>\u9057\u4f20\u57fa\u56e0\u5b58\u5728\u4e2a\u4f53\u5dee\u5f02\u3002\u8fd9\u4e00\u70b9\u5728\u67d0\u4e9b\u91cd\u8981\u57fa\u56e0\u4e2d\u4e5f\u5f88\u5e38\u89c1,\u6bcf\u4e2a\u4eba\u90fd\u56e0\u5176\u591a\u6837\u6027\u800c\u6709\u6240\u4e0d\u540c\u3002\u7136\u800c\uff0c\u6709\u4e9b\u53d8\u5316\u53ef\u80fd\u5177\u6709\u81f4\u75c5\u6027\u3002<\/p>\n\n\n\n<p>\u57fa\u56e0\u7684\u7ec4\u5408\u7531\u5168\u7403\u6570\u636e\u5e93\u5171\u4eab,\u901a\u8fc7\u641c\u7d22\u6570\u636e\u5e93\u53ef\u4ee5\u8c03\u67e5228\u79cd\u57fa\u56e0\u7684\u53d8\u5316\u662f\u5426\u5177\u6709\u81f4\u75c5\u6027\u3002<\/p>\n\n\n\n<p>\u5f53\u6bcd\u4eb2\u548c\u7236\u4eb2\u5728\u76f8\u540c\u90e8\u4f4d\u5177\u6709\u81f4\u75c5\u6027\u65f6,\u4ed6\u4eec\u7684\u5b69\u5b50\u6709\u9ad8\u9891\u7387\u53d1\u75c5\u7684\u98ce\u9669\u3002\u4e0d\u8fc7,\u53ea\u770b\u57fa\u56e0\u7684\u53d8\u5316\u662f\u6beb\u65e0\u610f\u4e49\u7684\u3002<span class=\"underline\" style=\"text-decoration: 5px underline #ffff66; text-underline-offset: -1px; color: #e54c84;\">\u9700\u8981\u786e\u5b9a (\u6ce8\u91ca) \u57fa\u56e0\u7684\u53d8\u5316\u662f\u5426\u771f\u7684\u5f02\u5e38\u3002<\/span>\u8fd9\u4e9b\u5c06\u7531\u4e1c\u4eac\u536b\u751f\u68c0\u67e5\u6240\u548cMedicover\u5408\u4f5c\u5b8c\u6210\u3002<\/p>\n\n\n\n<div class=\"about-231\">\n<h2>\u5173\u4e8e\u9690\u6027\u9057\u4f20\u75c5\u57fa\u56e0\u7684\u68c0\u67e5<\/h2>\n  <div class=\"container\">\n    <div class=\"accordion-wrap\">\n      <div class=\"accordion-button\">\n<p>\u68c0\u67e5\u7684\u65b9\u6cd5\/\u68c0\u67e5\u7684\u9650\u5ea6<\/p>\n <\/div>\n      <div class=\"accordion-text\">\n        <p>\n\u662f\u7531\u62e5\u6709228\u79cd\u7c7b\u9057\u4f20\u6027\u75be\u75c5\u7684Medicover Genetics Ltd.\u68c0\u9a8c\u6240\u7814\u5236\u7684\u643a\u5e26\u8005\u7b5b\u67e5\u68c0\u9a8c\u3002<br>\n\u4f7f\u7528\u6807\u51c6\u5316\u7684\u65b9\u6cd5\u63d0\u53d6\u57fa\u56e0\u7ec4\u8131\u6c27\u6838\u7cd6\u6838\u9178 (gDNA) ,\u5e76\u5728\u521b\u5efaDNA\u6587\u5e93\u4e4b\u524d\u8fdb\u884c\u673a\u68b0\u5206\u6bb5\u3002<br>\n\u901a\u8fc7\u57fa\u4e8e\u6eb6\u6db2\u7684\u6df7\u5408\u6280\u672f\u5bf9\u76ee\u6807\u57fa\u56e0\u7ec4\u533a\u57df\u8fdb\u884cDNA\u6d53\u7f29,\u4ee5\u4fbf\u8fdb\u884c\u65b0\u4e00\u4ee3\u6d4b\u5e8f (NGS) \u8fdb\u884c\u6d4b\u5e8f\u3002<br>\n\u83b7\u53d6\u7684\u5e8f\u5217\u6570\u636e\u53ef\u53c2\u8003\u57fa\u56e0\u7ec4,\u5e76\u901a\u8fc7\u72ec\u7279\u7684\u751f\u7269\u4fe1\u606f\u5b66\u7ba1\u9053\u9274\u5b9a\u7a81\u53d8\u3002<br>\n\u9690\u6027\u9057\u4f20\u53ef\u4ee5\u8bc6\u522b\u5355\u78b1\u57fa\u53d8\u4f53\u3001\u5fae\u5c0f\u7684\u5d4c\u5165\u548c\u7f3a\u5931 (\u226430\u4e2a\u78b1\u57fa) \u4ee5\u53ca\u590d\u5236\u7a81\u53d8 (CNV) \u3002<br>\n\u6839\u636eAmerican College of Medical Genomics and Genomics3-5\u7684\u6807\u51c6\u5bf9\u7a81\u53d8\u4f53\u8fdb\u884c\u5206\u7c7b\u3002<br>\n\u53d8\u5f02\u7684\u5206\u7c7b\u548c\u9610\u91ca\u662f\u4f7f\u7528Varsome Clinical\u5e73\u53f0\u6765\u6267\u884c\u7684,\u5e76\u4e14\u57fa\u4e8e\u68c0\u67e5\u4e2d\u7684\u4fe1\u606f\u3002<br>\n<span class=\"bold\">\u4ec5\u6c47\u62a5\u81f4\u75c5\u6027\u548c\u53ef\u7591\u81f4\u75c5\u6027\u7a81\u53d8\u3002\u4e0d\u4f1a\u6c47\u62a5\u5df2\u68c0\u6d4b\u5230\u4f46\u65e0\u660e\u786e\u610f\u4e49\u7684\u7a81\u53d8\u3001\u826f\u6027\u6216\u6f5c\u5728\u826f\u6027\u7a81\u53d8\u3002<\/span><br>\n\u5bf9\u4e8e\u4e34\u5e8a\u4e0a\u7684\u89e3\u91ca\u548c\u7ed3\u679c,\u5efa\u8bae\u63a5\u53d7\u9057\u4f20\u54a8\u8be2\u3002<br>\n\nA: \u5e38\u67d3\u8272\u4f53\u7ed3\u679c\u4e3a\u4e0b\u5217\u60c5\u51b5\u65f6\uff1a<br>\nA-1:\u300c\u672a\u68c0\u6d4b\u51fa\u4e34\u5e8a\u4e0a\u6709\u610f\u4e49\u7684\u7a81\u53d8\u4f53\u300d<br>\n\u5c3d\u7ba1\u4e0d\u80fd\u5b8c\u5168\u4fdd\u8bc1\u53d7\u68c0\u8005\u5e76\u975e\u9057\u4f20\u6027\u75be\u75c5\u7684\u643a\u5e26\u8005,\u4f46\u8fd9\u610f\u5473\u7740\u4e0d\u5b58\u5728\u57fa\u56e0\u7a81\u53d8,\u5c31\u4e0d\u592a\u53ef\u80fd\u662f\u643a\u5e26\u8005\u3002<br>\nA-2:\u300c\u68c0\u6d4b\u5230\u4e34\u5e8a\u4e0a\u663e\u7740\u7684\u7a81\u53d8\u4f53\u300d<br>\n\u9274\u5b9a\u51fa\u57fa\u56e0\u7684\u53d8\u5316,\u5e76\u8868\u660e\u53d7\u68c0\u8005\u662f\u8be5\u75be\u75c5\u7684\u5e26\u539f\u8005\u3002<br>\n\u5728\u8fd9\u79cd\u60c5\u51b5\u4e0b\uff0c\u6709\u53ef\u80fd\u6210\u4e3a\u4e24\u79cd\u6216\u66f4\u591a\u79cd\u75be\u75c5\u7684\u5e26\u539f\u8005\u3002<br>\n\u8fd9\u4e9b\u5e26\u539f\u8005\u4e00\u822c\u4e0d\u4f1a\u6709\u4efb\u4f55\u75be\u75c5\u75c7\u72b6\u3002<br>\n\u7136\u800c\uff0c\u4e5f\u6709\u4e24\u6761\u67d3\u8272\u4f53\u7684\u57fa\u56e0\u90fd\u663e\u793a\u5f02\u5e38\u7684\u60c5\u51b5,\u5728\u8fd9\u79cd\u60c5\u51b5\u4e0b,\u4e0d\u80fd\u6392\u9664\u53d7\u68c0\u8005\u73b0\u5728\u60a3\u75c5\u6216\u5c06\u6765\u60a3\u75c5\u7684\u53ef\u80fd\u6027\u3002<br>\n\nB: X\u8fde\u9501\u9057\u4f20\u6027\u75be\u75c5\uff1a<br>\nB-1:\u300c\u672a\u68c0\u6d4b\u5230\u4e34\u5e8a\u4e0a\u663e\u7740\u7684\u7a81\u53d8\u4f53\u300d<br>\n\u8fd9\u8868\u660e\u4e0d\u5b58\u5728\u9057\u4f20\u6027\u53d8\u5f02\u4f53,\u5982\u679c\u53d7\u8bd5\u5bf9\u8c61\u662f\u7537\u6027,\u5219\u6ca1\u6709\u60a3\u75c5,\u5982\u679c\u53d7\u8bd5\u5bf9\u8c61\u662f\u5973\u6027,\u5219\u53ef\u4ee5\u8bf4\u643a\u5e26\u8005\u7684\u53ef\u80fd\u6027\u5f88\u5c0f,\u4f46\u4e0d\u80fd\u5b8c\u5168\u5426\u5b9a\u3002<br>\nB-2:\u300c\u68c0\u6d4b\u5230\u4e34\u5e8a\u4e0a\u663e\u7740\u7684\u7a81\u53d8\u4f53\u300d\uff1a<br>\n\u57fa\u56e0\u6539\u53d8\u5df2\u88ab\u8bc6\u522b,\u5e76\u663e\u793a\u51fa\u5176\u4ed6\u53d8\u5316\u3002\u5728\u5973\u6027\u53d7\u8bd5\u8005\u7684\u60c5\u51b5\u4e0b\uff0c\u6709\u53ef\u80fd\u662f\u643a\u5e26\u8005\u3002<br>\n\u5982\u679c\u53d7\u8bd5\u8005\u662f\u7537\u6027\uff0c\u5219\u610f\u5473\u7740\u4ed6\u4eec\u73b0\u5728\u6216\u5c06\u6765\u4e5f\u53ef\u80fd\u60a3\u75c5\u3002<br>\n\u7136\u800c\uff0c\u6b64\u7ec4\u75be\u75c5\u7684\u4e25\u91cd\u7a0b\u5ea6\u4e0d\u540c,\u56e0\u6b64\u60a3\u8005\u53ef\u80fd\u4e0d\u4f1a\u51fa\u73b0\u4e34\u5e8a\u75c7\u72b6\u3002<br>\n\u8be5\u6d4b\u8bd5\u7684\u76ee\u7684\u662f\u901a\u8fc7\u7784\u51c6\u6240\u6709\u4ee3\u7801\u5916\u663e\u4f53\u3001MANE\u548c\/\u6216\u5e38\u89c4\u8f6c\u5f55\u7269\u4ee5\u53ca\u76f8\u90bb\u5185\u542b\u5b50\u5e8f\u5217\u768410bp\u6765\u5bfb\u627e\u4e0e\u68c0\u6d4b\u57fa\u56e0\u76f8\u5173\u7684\u6240\u6709\u53d8\u4f53\u3002<br>\n\u5728\u8be5\u6d4b\u5b9a\u4e2d,\u76ee\u6807\u533a\u57df\u5916\u7684\u7a81\u53d8\u4f53\u5e76\u672a\u88ab\u68c0\u6d4b\u5230\u3002<br>\n\u9664\u975e\u53e6\u6709\u8bf4\u660e\uff0c\u5426\u5219\u8be5\u6d4b\u5b9a\u5c06\u4e0d\u68c0\u6d4b\u542f\u52a8\u5b50\u548c\u5176\u4ed6\u975e\u7f16\u7801\u533a\u7684\u5e8f\u5217\u53d8\u5316 (SNV\u548cINDELS) \u3002<br>\n\u5206\u6790\u5305\u62ec\u68c0\u6d4b\u57fa\u56e0\u7684\u4e34\u5e8a\u4e0a\u88ab\u8ba4\u4e3a\u91cd\u8981\u7684\u975e\u7f16\u7801\u533a\u4e2d\u7279\u5b9a\u7684\u5e8f\u5217\u53d8\u5316 (SNV\u548cINDELS) \u3002<br>\n\u5982\u679c\u5728\u57fa\u56e0\u4e2d\u53d1\u73b02\u4e2a\u7a81\u53d8\u4f53,\u5219\u65e0\u6cd5\u533a\u5206\u5176\u662f\u4f4d\u4e8e\u4e00\u6761\u67d3\u8272\u4f53\u4e0a (\u987a\u884c) \u8fd8\u662f\u4f4d\u4e8e\u5176\u4ed6\u67d3\u8272\u4f53\u4e0a (\u53cd\u76f8) \u3002<br>\n\u57fa\u56e0\u6539\u53d8 (\u5982\u5012\u4f4d\u3001\u91cd\u5efa\u3001\u591a\u500d\u6027\u548c\u5916\u9057\u4f20\u6548\u5e94) \u4e0d\u53d7\u6b64\u68c0\u67e5\u7684\u5f71\u54cd\u3002<br>\n\u67d0\u4e9b\u5e8f\u5217\u53d8\u5316 (SNV\u548cINDELS) \uff0c\u5305\u62ec\u91cd\u590d\u5e8f\u5217\u7684\u76ee\u6807\u533a\u57df,\u9ad8\u540c\u6e90\u6027\u5e8f\u5217,\u4f8b\u5982\u8282\u6bb5\u6027\u91cd\u590d\u548c\u5047\u6027\u57fa\u56e0,\u4ee5\u53ca\u9ad8\/\u4f4eGC\u542b\u91cf\u533a\u57df\u90fd\u53ef\u80fd\u65e0\u6cd5\u68c0\u6d4b\u5230\u3002<br>\nCopy Number Variations (CNV) \u662f\u4f7f\u7528\u9ad8\u8d28\u91cf\u4e14\u552f\u4e00\u5bf9\u9f50\u7684\u5e8f\u5217\u8bfb\u6570\u8ba1\u7b97\u51fa\u6765\u7684,\u53ef\u907f\u514d\u91cd\u590d\u3002<br>\n\u4f7f\u7528GC\u542b\u91cf\u7684\u6807\u51c6\u5316\u548c\u5bf9\u6d4b\u5e8f\u8303\u56f4\u7814\u7a76\u7684\u6df1\u5ea6,\u9488\u5bf9\u76ee\u6807\u533a\u57df\u7684\u5b50\u96c6\u68c0\u6d4bCNV\u3002<br>\n\u5982\u679c\u6240\u68c0\u6d4b\u5230\u7684coverage\u660e\u663e\u504f\u79bb\u6240\u53c2\u8003\u7684\u4f30\u7b97coverage,\u90a3\u4e48\u5c06\u68c0\u6d4b\u5230CNV\u5f02\u5e38\u3002<br>\nCNV\u7684\u68c0\u6d4b\u6700\u591a\u53ef\u8fdb\u884c\u6570\u4e2a\u5916\u663e\u5b50\u7ea7\u522b\u7684\u89e3\u6790\u3002<br>\nCNV\u4e3a\u9633\u6027\u65f6\uff0c\u91c7\u7528\u6b63\u4ea4\u6cd5\u8fdb\u884c\u786e\u8ba4\u3002<br>\n\u5bf9\u4e8e\u542b\u6709\u8f83\u5c11\u6620\u5c04\u533a\u57df\u3001\u91cd\u590d\u5e8f\u5217\u3001\u5047\u57fa\u56e0\u6216\u9ad8\/\u4f4eGC\u542b\u91cf\u7684\u57fa\u56e0\u7ec4\u533a\u57df,\u5c06\u4e0d\u68c0\u6d4bCNV\u3002<br><br>\n<span class=\"bold\">\u4f7f\u7528NGS\u68c0\u6d4bCNV\u7684\u7075\u654f\u5ea6\/\u7279\u5f02\u6027\u5c0f\u4e8e\u6b63\u4ea4\u5b9a\u91cf\u65b9\u6cd5,\u56e0\u6b64\u4e0d\u80fd\u4fdd\u8bc1\u6240\u62a5\u544a\u7684CNV\u4e0d\u5b58\u5728\u3002<\/span><br>\n\u76ee\u6807\u57fa\u56e0\u4e2d\u5e76\u4e0d\u5b58\u5728\u81f4\u75c5\u7a81\u53d8\u4f53\u8fd9\u4e00\u4e8b\u5b9e\u51cf\u5c11\u4e86\u60a3\u75c5\u7684\u53ef\u80fd\u6027,\u4f46\u5e76\u4e0d\u80fd\u5b8c\u5168\u6392\u9664\u60a3\u75c5\u76f8\u5173\u7efc\u5408\u75c7\u7684\u53ef\u80fd\u6027\u3002<br>\n<\/p>\n  <\/div>\n  <\/div>\n  \n  <div class=\"accordion-wrap\">\t\t\t\t\t\n    <div class=\"accordion-button\">\t\t\t\t\t\n<p>\u9644\u52a0\u4fe1\u606f\u30fb\u62ab\u9732<\/p>\n<\/div>\n    <div class=\"accordion-text\">\n      <p>\n\u9a8c\u8bc1\u6d4b\u8bd5\u5c06\u7531Medicaver Genetics Ltd\u8fdb\u884c\u3002<br>\n\u8be5\u68c0\u67e5\u5e76\u4e0d\u80fd\u9274\u5b9a\u4e0e\u88ab\u68c0\u67e5\u75be\u75c5\u76f8\u5173\u7684\u6240\u6709\u7a81\u53d8\u3002<br>\n<span class=\"bold\">\u5c3d\u7ba1\u8be5\u68c0\u67e5\u975e\u5e38\u7cbe\u51c6,\u4f46\u4ecd\u7136\u5b58\u5728\u5047\u9633\u6027\u6216\u5047\u9634\u6027\u7684\u53ef\u80fd\u6027,\u5e76\u4e14\u53ef\u80fd\u662f\u56e0\u6280\u672f\u6216\u751f\u7269\u5b66\u9650\u5236\u5f15\u8d77\u7684\u3002<\/span><br>\n\u8fd9\u5305\u62ec\u7f55\u89c1\u7684\u9057\u4f20\u53d8\u5f02\u3001\u5d4c\u5408\u4f53\u3001\u8f93\u8840\u3001\u9aa8\u9ad3\u79fb\u690d\u6216\u5176\u4ed6\u7f55\u89c1\u7684\u57fa\u56e0\u4e8b\u4ef6\u3002<br>\n\u67d0\u4e9b\u672a\u68c0\u6d4b\u5230\u7684\u57fa\u56e0\u53d8\u5316\u6709\u53ef\u80fd\u53d7\u5230\u5f71\u54cd,\u4e14\u65e0\u6cd5\u901a\u8fc7\u5e26\u539f\u7b5b\u9009\u6d4b\u8bd5\u8fdb\u884c\u68c0\u6d4b\u3002<br>\n<span 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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","protected":false},"excerpt":{"rendered":"\u5173\u4e8e228\u79cd\u9690\u6027\u9057\u4f20\u57fa\u56e0\u68c0\u6d4b \u5728Hiro&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":80,"featured_media":0,"parent":38182,"menu_order":88,"comment_status":"closed","ping_status":"closed","template":"page_wide.php","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-71954","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/71954","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=71954"}],"version-history":[{"count":85,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/71954\/revisions"}],"predecessor-version":[{"id":119805,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/71954\/revisions\/119805"}],"up":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/38182"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=71954"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}