{"id":70615,"date":"2024-01-10T16:48:59","date_gmt":"2024-01-10T07:48:59","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=70615"},"modified":"2026-07-23T17:11:58","modified_gmt":"2026-07-23T08:11:58","slug":"autosomal-recessive-inheritance","status":"publish","type":"page","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/?lang=en","title":{"rendered":"228 recessive genetic disorders identified by  Hiro Clinic"},"content":{"rendered":"\n<div class=\"wakaru-box\" style=\"border:2px solid #e54c84;border-radius:8px;padding:20px 24px;margin:8px auto 24px;background:#fff9fb;max-width:820px;\">\n<p style=\"font-weight:700;font-size:1.15rem;color:#e54c84;margin:0 0 10px;\">What You Will Learn on This Page<\/p>\n<ul style=\"margin:0;padding-left:1.2em;line-height:1.9;\">\n<li>What a &#8220;carrier&#8221; is and why approximately 70% of people fall into this category<\/li>\n<li>Why &#8220;couple testing,&#8221; where both partners are tested together, is important<\/li>\n<li>Up to 231 recessive genetic disorders identified by Carrier Screening Test 231<\/li>\n<li>Testing process, optional fees, and turnaround time for results<\/li>\n<li>Steps you can take if risks are detected (such as amniocentesis support)<\/li>\n<\/ul>\n<\/div>\n\n\n\n<style>\n.caution{\n  position:relative;\n  aspect-ratio:2 \/ 1;\n  width:100%;\n  height:100%;\n  text-align:center;\n  color:#fe0000;\n}\n.caution p{\n  position:absolute;\n  top:50%;\n  left:50%;\n  transform:translate(-50%,-50%);\n  font-size:clamp(14px,3vw,36px);\n  width:100%;\n}\n.caution p span{\n  font-size:clamp(16px,5vw,56px);\n  font-weight:bold;\n}\n<\/style>\n\n\n\n<section class=\"sec1\">\n<h2>70% of Parents Are Carriers? The Utility of Recessive Gene Testing<\/h2>\n<div class=\"pink-pointbox\">\n\n<div class=\"flex\">\n<div class=\"flex-item\">\n<p class=\"ex\"><span class=\"pink-pointmoji\">70%<\/span> of people carry some form of genetic anomaly (mutation).<br>\nIndividuals with such genetic mutations are called &#8220;carriers.&#8221;<br>\nEven if there are no visible or physical abnormalities, that gene can potentially affect their children.<br>\nWhen both parents carry a mutation in the same gene, the probability of their child developing the disease is <span class=\"pink-pointmoji\">25%<\/span>, the probability of becoming a carrier is <span class=\"pink-pointmoji\">50%<\/span>, and the probability of inheriting normal genes is <span class=\"pink-pointmoji\">25%<\/span>.<br>\n<\/p>\n<\/div>\n\n<div class=\"flex-item\">\n<img class=\"d-pc\" decoding=\"sync\" fetchpriority=\"high\" loading=\"eager\" src=\"\/nipt\/wp-content\/uploads\/2026\/07\/img-228-test-en.webp\" alt=\"Testing Recommended Worldwide\">\n<img class=\"d-sp\" decoding=\"sync\" fetchpriority=\"high\" loading=\"eager\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/img-228-test-e1752021528760.webp\" alt=\"Testing Recommended Worldwide\">\n<\/div>\n\n\n<\/div>\n\n<\/div>\n<p>So, what kind of testing is performed for these individuals? Also, what types of diseases can be identified?<\/p>\n<\/section>\n\n<style>\n.d-pc { display: block; }\n.d-sp { display: none; }\n\n.pink-pointbox {\n background-color: #fff9fb;\n border-radius: 6px;\n border: 3px dashed #fdb0bc;\n padding: 20px;\n margin-bottom: 1rem;\n}\n.pink-pointbox .flex {\n flex-direction: column;\n align-items: center;\n gap: 20px;\n}\n.pink-pointbox .flex .flex-item {\n text-align: center;\n}\n.pink-pointbox .ex {\n margin-bottom: 0!important;\n font-size: 1.125rem;\n}\n.pink-pointmoji {\n color: red;\n}\n.flex-item {\n flex: 1 auto;\n}\n@media screen and (max-width: 700px) {\n .d-pc { display: none; }\n .d-sp { display: block; }\n\n .sec1 p {\n  margin: 0.5rem;\n }\n .flex {\n  flex-direction: column;\n }\n .flex-item {\n  flex: 1;\n }\n .flex-item:last-child {\n  width: 100%;\n }\n}\n@media screen and (min-width: 701px) {\n .sp-only {\n  display: none;\n }\n}\n<\/style>\n\n\n\n<figure class=\"svg-fig\" style=\"max-width:820px;margin:8px auto 28px;\">\n<svg xmlns=\"http:\/\/www.w3.org\/2000\/svg\" viewBox=\"0 0 760 250\" role=\"img\" aria-label=\"A carrier is a person who has a mutation in only one gene of a pair and shows no symptoms. In Japan, approximately 70% of people are said to be carriers of some kind.\" style=\"width:100%;height:auto;border:1px solid #f2c4d2;border-radius:8px;\">\n<rect width=\"760\" height=\"250\" fill=\"#fff9fb\"\/>\n<text x=\"380\" y=\"38\" text-anchor=\"middle\" font-size=\"21\" font-weight=\"bold\" fill=\"#e54c84\" font-family=\"sans-serif\">What is a &#8220;Carrier&#8221;?<\/text>\n<rect x=\"238\" y=\"74\" width=\"130\" height=\"40\" rx=\"6\" fill=\"#bcc4cc\"\/>\n<text x=\"303\" y=\"100\" text-anchor=\"middle\" font-size=\"15\" fill=\"#333\" font-family=\"sans-serif\">Normal Gene<\/text>\n<rect x=\"392\" y=\"74\" width=\"130\" height=\"40\" rx=\"6\" fill=\"#f28fb0\"\/>\n<text x=\"457\" y=\"100\" text-anchor=\"middle\" font-size=\"15\" fill=\"#333\" font-family=\"sans-serif\">Mutated Gene<\/text>\n<text x=\"380\" y=\"158\" text-anchor=\"middle\" font-size=\"17\" fill=\"#333\" font-family=\"sans-serif\">If one gene is normal, symptoms will not develop<\/text>\n<text x=\"380\" y=\"190\" text-anchor=\"middle\" font-size=\"18\" font-weight=\"bold\" fill=\"#e54c84\" font-family=\"sans-serif\">\uff1d An asymptomatic &#8220;Carrier&#8221; state<\/text>\n<text x=\"380\" y=\"226\" text-anchor=\"middle\" font-size=\"14\" fill=\"#666\" font-family=\"sans-serif\">In Japan, approximately 70% of people are said to be carriers of some kind<\/text>\n<\/svg>\n<svg xmlns=\"http:\/\/www.w3.org\/2000\/svg\" viewBox=\"0 0 760 330\" role=\"img\" aria-label=\"When both partners are carriers of the same gene mutation, their children have a 25% chance of developing the condition, a 50% chance of being a carrier, and a 25% chance of being unaffected. That is why couple testing, taken together by both partners, is essential.\" style=\"width:100%;height:auto;border:1px solid #f2c4d2;border-radius:8px;margin-top:16px;\">\n<rect width=\"760\" height=\"330\" fill=\"#fff9fb\"\/>\n<text x=\"380\" y=\"36\" text-anchor=\"middle\" font-size=\"20\" font-weight=\"bold\" fill=\"#e54c84\" font-family=\"sans-serif\">When both partners carry the same mutation, their child will be&#8230;<\/text>\n<g font-family=\"sans-serif\">\n<rect x=\"60\" y=\"70\" width=\"150\" height=\"96\" rx=\"8\" fill=\"#e05a7a\"\/>\n<text x=\"135\" y=\"112\" text-anchor=\"middle\" font-size=\"16\" fill=\"#fff\">Affected<\/text>\n<text x=\"135\" y=\"138\" text-anchor=\"middle\" font-size=\"24\" font-weight=\"bold\" fill=\"#fff\">25%<\/text>\n<rect x=\"230\" y=\"70\" width=\"150\" height=\"96\" rx=\"8\" fill=\"#f7b8ca\"\/>\n<text x=\"305\" y=\"112\" text-anchor=\"middle\" font-size=\"16\" fill=\"#333\">Carrier<\/text>\n<text x=\"305\" y=\"138\" text-anchor=\"middle\" font-size=\"24\" font-weight=\"bold\" fill=\"#333\">25%<\/text>\n<rect x=\"400\" y=\"70\" width=\"150\" height=\"96\" rx=\"8\" fill=\"#f7b8ca\"\/>\n<text x=\"475\" y=\"112\" text-anchor=\"middle\" font-size=\"16\" fill=\"#333\">Carrier<\/text>\n<text x=\"475\" y=\"138\" text-anchor=\"middle\" font-size=\"24\" font-weight=\"bold\" fill=\"#333\">25%<\/text>\n<rect x=\"570\" y=\"70\" width=\"150\" height=\"96\" rx=\"8\" fill=\"#8fc9a0\"\/>\n<text x=\"645\" y=\"112\" text-anchor=\"middle\" font-size=\"16\" fill=\"#fff\">Unaffected<\/text>\n<text x=\"645\" y=\"138\" text-anchor=\"middle\" font-size=\"24\" font-weight=\"bold\" fill=\"#fff\">25%<\/text>\n<\/g>\n<text x=\"380\" y=\"210\" text-anchor=\"middle\" font-size=\"16\" fill=\"#333\" font-family=\"sans-serif\">Ratio: 25% Affected \/ 50% Carrier \/ 25% Unaffected<\/text>\n<rect x=\"90\" y=\"238\" width=\"580\" height=\"62\" rx=\"8\" fill=\"#fff\" stroke=\"#e54c84\" stroke-width=\"2\"\/>\n<text x=\"380\" y=\"266\" text-anchor=\"middle\" font-size=\"17\" font-weight=\"bold\" fill=\"#e54c84\" font-family=\"sans-serif\">That is why taking &#8220;Couple Testing&#8221;<\/text>\n<text x=\"380\" y=\"290\" text-anchor=\"middle\" font-size=\"17\" font-weight=\"bold\" fill=\"#e54c84\" font-family=\"sans-serif\">together as a couple is essential<\/text>\n<\/svg>\n<figcaption style=\"text-align:center;font-size:0.85rem;color:#666;margin-top:8px;\">How Being a Carrier Works and the Importance of Couple Testing<\/figcaption>\n<\/figure>\n\n\n\n<div class=\"newcta\">\n <a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\">\n  <p class=\"jisseki mincho\">Our NIPT Track Record <span class=\"big\">Over 75,000<span> cases<\/span><\/span><\/p>\n  <p class=\"res-btn\">Check Availability &#038; Book Now<\/p>\n <\/a>\n<\/div>\n<style>\n.newcta{\n  margin:1rem auto 2rem;\n}\n.newcta a{\n  width:100%;\n  max-width:500px;\n  margin:0 auto;\n  display:block;\n  text-decoration:none;\n  text-align:center;\n}\n.newcta p{\n  margin:0 auto;\n}\n.newcta .jisseki{\n  margin:0 auto;\n  position:relative;\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n  background: linear-gradient(to bottom, #b68d3c 0%, #e2b95f 35%, #b68d3c);\n  -webkit-background-clip: text;\n  color: rgba(0,0,0,0);\n  font-weight:bold;\n  display:inline-flex;\n  flex-wrap:wrap;\n  align-items:center;\n  justify-content:center;\n  gap:.5rem;\n  padding-bottom:1rem;\n}\n.newcta .jisseki span{\n  font-size:2rem;\n}\n.newcta .jisseki span span{\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n}\n.newcta .res-btn{\n  display:inline-block;\n  background:#f0a3b8;\n  padding:1.5rem 2rem;\n  text-align:center;\n  border-radius:1rem;\n  box-shadow:0 .5rem .5rem #f0a3b866;\n  color:#fff;\n  font-size:1.2rem;\n  font-weight:bold;\n  letter-spacing:.2rem;\n  min-width:320px;\n}\n@media screen and (max-width:500px){\n  .newcta .jisseki .big{\n    width:100%;\n  }\n  .newcta .res-btn{\n    padding:1.5rem 0;\n  }\n}\n<\/style>\n<div class=\"old-cta\">\n<div class=\"container\" style=\"padding:10px\">\n<div class=\"nipt-bnr mincho\">\n<a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\">\n<p class=\"jisseki font-s gothic\">Our NIPT Track Record<\/p>\n<p class=\"total font-m\"><span class=\"gold font-l\">68,000<\/span> cases<\/p>\n<p class=\"res font-s gothic\">Book an Appointment \u25b6\ufe0e\u25b6\ufe0e\u25b6\ufe0e<\/p>\n<\/a>\n<\/div>\n<\/div>\n<\/div>\n<div class=\"content-center\" style=\"max-width:1200px;margin:0 auto;width:90%\">\n <div class=\"image-text-block\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/20th-anniversary\/?lang=en\" style=\"max-width:825px;margin:0.5rem auto\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/06\/forplan_btn-en-1.webp\" style=\"width:100%\"><\/a>\n <\/div>\n<\/div>\n<style>\n.old-cta{\n  display:none;\n}\n.nipt-bnr{\n  display:flex;\n  justify-content:center;\n  align-items:center;\n  width:calc(100% - 3rem);\n  min-width:350px;\n  max-width:480px;\n  aspect-ratio:11 \/ 5;\n  position:relative;\n  margin:1rem auto;\n  background-image:linear-gradient(to bottom,#63513c,#63513c,#feef7b,#63513c,#63513c);\n  border-radius:8px;\n  box-shadow:6px 6px 6px #999;\n}\n.nipt-bnr .gold{\n  background:linear-gradient(to bottom,#d1ac60,#e8ca74 50%,#d29e30,#ac7726);\n  -webkit-background-clip: text;\n  -webkit-text-fill-color: transparent;\n  font-weight:bold;\n}\n.cta-btn-nipt-reservation-wimg{\n  text-decoration:none;\n  border-bottom:initial;\n}\n.label-link {\n  align-items: center;\n  text-decoration: none;\n  gap: 8px;\n}\n.image-text-block {\n  text-align: center;\n}\n.tittle_price{\n font-weight:900;\n font-size:2rem;\n color:#e54c84;\n text-align:center;\n border-bottom:none;\n margin-bottom:-10px;\n}\n.box_11 {\n  width: 12px;\n  height: 12px;\n  background-color: #e54c84;\n  border-radius: 2px;\n  flex-shrink: 0;\n}\n.center-container {\n  text-align: center;\n}\n.label-box{\ndisplay:block;\nfont-size:1.3rem !important;\nfont-weight:900;\ncolor:#e54c84;\ntext-align:right;\n}\n<\/style>\n\n\n\n\n\n<h3>\u2460 What is Carrier Screening Test 231 at Hiro Clinic?<\/h3>\n<p>Hiro Clinic offers a prenatal screening test that can examine genes associated with up to 231 severe recessive genetic disorders affecting the fetus. This screening is internationally recognized as crucial, with major medical organizations such as the American College of Obstetricians and Gynecologists (ACOG) and the American Society of Human Genetics (ASHG) recommending that information about it be widely provided.<br>\nRecessive genetic disorders are conditions that can develop in a child when both the father and mother carry mutations in the same gene. In this test, genetic material is collected from the oral mucosa (inner cheek) of both the father and mother to check whether both parents carry the same mutation.<\/p>\n\n<figure style=\"margin-bottom:1rem;\">\n<img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/11\/swab-img.webp\" alt=\"Photo of testing kit\">\n<\/figure>\n\n<p>According to research by Hiro Clinic, approximately 70% of individuals are found to carry one or more recessive gene mutations. This state is known as being a &#8220;carrier&#8221; (gene carrier)\u2014a condition where, despite having no visible symptoms or physical health issues, there is a possibility of passing the gene on to their children.<\/p>\n<p>When both parents carry the same genetic mutation, the risk of their child developing the disease follows these probabilities:<\/p>\n<ul>\n<li>25% chance (1 in 4) of developing the disease<\/li>\n<li>50% chance (1 in 2) of becoming an asymptomatic carrier<\/li>\n<li>25% chance (1 in 4) of inheriting normal genes<\/li>\n<\/ul>\n\n<figure><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/07\/idenshi-img-en.webp\" alt=\"When both parents carry the same genetic mutation\"><\/figure>\n<p>If high risk is identified through this test, amniocentesis may be recommended as a confirmatory test.<\/p>\n\n\n\n<h3>\u2461 Gene &#8220;Mutations&#8221; Can Sometimes Cause Disease<\/h3>\n<p>Our bodies are built according to genetic information that functions like a blueprint. Humans have approximately 20,000 genes, which are passed down from parents to their children. They contain essential information that determines various characteristics, such as hair color, height, and physical constitution.<br>\nHowever, in rare cases, mutations occur in this blueprint. These mutations can sometimes lead to specific diseases.<br>\nFor example, diseases caused by a mechanism called &#8220;recessive inheritance&#8221; develop only when a child receives the same type of gene mutation from both the father and the mother. Even if only one parent carries the mutation, the individual will not develop the recessive genetic disorder.<br>\nOne example of a recessive genetic disorder involves a mutation in the <i>OCA2<\/i> gene located on chromosome 15. If a child inherits two copies of this mutation\u2014one from the father and one from the mother\u2014the body becomes unable to produce the &#8220;P protein,&#8221; which is essential for synthesizing &#8220;melanin,&#8221; the pigment that determines the color of skin, hair, and eyes. Consequently, melanin is not produced, resulting in a condition known as &#8220;Oculocutaneous Albinism,&#8221; where the skin and hair appear white.<\/p>\n<figure><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/image1.png\" alt=\"Diagram explaining how inheriting the same genetic mutation from both parents leads to disease onset through recessive inheritance\"><\/figure>\n<p>In addition, diseases caused by abnormalities in the &#8220;X chromosome&#8221;\u2014a sex chromosome\u2014are known as X-linked recessive disorders, which characteristically affect males more frequently. Because males have only one X chromosome, if a mutation is present, there is no alternative copy to compensate for it, making disease manifestation more likely. On the other hand, females have two X chromosomes; even if one carries an abnormality, as long as the other functions normally, it can compensate for the defect, making disease development far less common.<\/p>\n\n\n\n<h3>\u2462 Inherited Disorders That Can Happen to Anyone<\/h3>\n<p>Recessive genetic diseases are often thought to be rare, but in fact, there are more than 3,000 distinct types. Taken together, it is estimated that 1 to 2 out of every 100 couples may have a child born with a genetic disorder. In other words, this is a topic that concerns everyone.<br>\nFor this reason, undergoing screening prior to or during early pregnancy allows couples to calmly consider their options even if a risk is detected. Options may include selecting healthy embryos through in vitro fertilization (IVF) or confirming the baby&#8217;s condition after pregnancy via amniocentesis.<\/p>\n\n\n\n<h3>\u2463 Also Helpful for Managing Mother and Child Health<\/h3>\n<p>Carrier Screening Test 231 not only provides insight into a child&#8217;s disease risks but also aids in managing the mother&#8217;s health. For example, if risks such as a tendency to bleed\u2014which requires caution during pregnancy\u2014or cardiac disease risks can be identified in advance, doctors can prepare accordingly ahead of time.<\/p>\n<figure><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/image3.png\" alt=\"Diagram showing how Carrier Screening Test 231 is also helpful for maternal health management\"><\/figure>\n<figure><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/image5.png\" alt=\"Diagram illustrating what can be identified through Carrier Screening Test 231\"><\/figure>\n<p>In this way, Carrier Screening Test 231 serves as valuable support for a reassuring pregnancy and childbirth. At Hiro Clinic, this screening can be combined with <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> (Non-Invasive Prenatal Testing). For patients undergoing <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, Carrier Screening Test 231 is offered at an optional discounted rate. Naturally, individuals who do not undergo <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> can also take this test as a standalone option.<\/p>\n\n\n\n<h3>\u2464 Japanese-Specific Genetic Risks<\/h3>\n<p>In Japan, there was a historical period when marriages between cousins were common, which made it easier for specific gene mutations to persist within the population. Consequently, certain genetic conditions are more prevalent among Japanese people.<br>\nFor example, it has become clear that among eye-related genetic disorders, conditions such as &#8220;retinitis pigmentosa&#8221; and &#8220;fundus albipunctatus&#8221; are particularly frequent in Japan. In particular, the <i>EYS<\/i> gene has been identified as the most frequent causative gene for retinitis pigmentosa in Japanese individuals. Because these diseases are often caused by specific gene mutations, they are surprisingly relevant and close to home.<\/p>\n<figure><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/image4.png\" alt=\"Diagram showing hereditary eye diseases common in Japan, such as retinitis pigmentosa\"><\/figure>\n<p>Such genetic mutations specific to the Japanese population are sometimes not included in overseas databases. Therefore, Carrier Screening Test 231, which is tailored specifically for Japanese individuals, is extraordinarily important.<\/p>\n\n\n\n<h3>\u2465 Toward Future Healthcare: A Fair Society Where Everyone Has Choices<\/h3>\n<p>Future healthcare will focus on &#8220;preventing disease&#8221; rather than simply &#8220;treating disease after it occurs.&#8221; Carrier Screening Test 231 represents a vital first step in this direction.<br>\nIn countries like Australia and the Netherlands, initiatives are underway to incorporate recessive gene testing into national healthcare systems. In Japan, too, there is a growing need to establish systems that allow insurance coverage so that all couples can access screening fairly.<br>\nAt Hiro Clinic, we recommend Carrier Screening Test 231 for couples, including as part of a pre-marital bridal checkup before pregnancy. Undergoing testing early provides essential decision-making information for future family planning, pregnancy, and childbirth. It allows couples to share results and calmly prepare for delivery.<br>\nFurthermore, performing Carrier Screening Test 231 on newborn infants enables early detection of future health risks, facilitating personalized healthcare management. The test can be performed painlessly simply by collecting a sample with a gentle cheek swab.<br>\nThis screening represents a choice to &#8220;know,&#8221; aiming to protect future lives. Making this test\u2014which is recommended by major medical societies in the United States\u2014widely understood and accessible to many in Japan is what modern healthcare strives to achieve.<\/p>\n\n\n\n<div class=\"sanko\">\n<h3 style=\"border-bottom:1px solid #e54c84;\">\u53c2\u8003\u30fb\u5f15\u7528\u6587\u732e<\/h3>\n<ul>\n<li>Li, Huanyun, et al. \u2018P806: Application Value of Noninvasive Prenatal Diagnosis of Recessive Monogenic Genetic Diseases Based on Relative Haplotype Dosage Changes\u2019. Genetics in Medicine Open, vol. 3, 2025, p. 103175. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1016\/j.gimo.2025.103175\">https:\/\/doi.org\/10.1016\/j.gimo.2025.103175<\/a>.<\/li>\n<li>Temaj, G., et al. \u2018The Impact of Consanguinity on Human Health and Disease with an Emphasis on Rare Diseases\u2019. Journal of Rare Diseases, vol. 1, no. 1, Dec. 2022, p. 2. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1007\/s44162-022-00004-5\">https:\/\/doi.org\/10.1007\/s44162-022-00004-5<\/a>.<\/li>\n<li>Peterlin, Borut, and Ana Peterlin. \u2018Carrier Screening and Pregnancy\u2019. Best Practice &#038; Research Clinical Obstetrics &#038; Gynaecology, vol. 100, June 2025, p. 102601. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1016\/j.bpobgyn.2025.102601\">https:\/\/doi.org\/10.1016\/j.bpobgyn.2025.102601<\/a>.<\/li>\n<li>Hotta, Yoshihiro, et al. \u2018Ocular Genetics in the Japanese Population\u2019. Japanese Journal of Ophthalmology, vol. 68, no. 5, Sept. 2024, pp. 401\u201318. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1007\/s10384-024-01109-8\">https:\/\/doi.org\/10.1007\/s10384-024-01109-8<\/a>.<\/li>\n<li>Wang, Tianjiao, et al. \u2018An Overview of Reproductive Carrier Screening Panels for Autosomal Recessive and\/or X\u2010linked Conditions: How Much Do We Know?\u2019 Prenatal Diagnosis, vol. 43, no. 11, Oct. 2023, pp. 1416\u201324. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1002\/pd.6434\">https:\/\/doi.org\/10.1002\/pd.6434<\/a>.<\/li>\n<li>Dive, Lisa, et al. \u2018Ethical Considerations in Gene Selection for Reproductive Carrier Screening\u2019. Human Genetics, vol. 141, no. 5, May 2022, pp. 1003\u201312. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1007\/s00439-021-02341-9\">https:\/\/doi.org\/10.1007\/s00439-021-02341-9<\/a>.<\/li>\n<li>Edwards, Samantha, and Nigel Laing. \u2018Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review\u2019. Journal of Personalized Medicine, vol. 12, no. 10, Oct. 2022, p. 1699. DOI.org (Crossref), <a  href=\"https:\/\/doi.org\/10.3390\/jpm12101699\">https:\/\/doi.org\/10.3390\/jpm12101699<\/a>.<\/li>\n<li>Prabhu, Akshatha. \u2018Fetal Medicine and Current Practice of Prenatal Screening\u2019. Apollo Medicine, vol. 20, no. 2, June 2023, pp. 135\u201338. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.4103\/am.am_60_23\">https:\/\/doi.org\/10.4103\/am.am_60_23<\/a>.<\/li>\n<li>Veneruso, Iolanda, et al. \u2018Current Updates on Expanded Carrier Screening: New Insights in the Omics Era\u2019. Medicina, vol. 58, no. 3, Mar. 2022, p. 455. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.3390\/medicina58030455\">https:\/\/doi.org\/10.3390\/medicina58030455<\/a>.<\/li>\n<li>Srinivasan, Balaji S., et al. \u2018A Universal Carrier Test for the Long Tail of Mendelian Disease\u2019. Reproductive BioMedicine Online, vol. 21, no. 4, Oct. 2010, pp. 537\u201351. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1016\/j.rbmo.2010.05.012\">https:\/\/doi.org\/10.1016\/j.rbmo.2010.05.012<\/a>.<\/li>\n<li>Nguengang Wakap, St\u00e9phanie, et al. \u2018Estimating Cumulative Point Prevalence of Rare Diseases: Analysis of the Orphanet Database\u2019. European Journal of Human Genetics, vol. 28, no. 2, Feb. 2020, pp. 165\u201373. www.nature.com, <a href=\"https:\/\/doi.org\/10.1038\/s41431-019-0508-0\">https:\/\/doi.org\/10.1038\/s41431-019-0508-0<\/a>.<\/li>\n<li>Chung, Brian Hon Yin, et al. \u2018Rare versus Common Diseases: A False Dichotomy in Precision Medicine\u2019. Npj Genomic Medicine, vol. 6, no. 1, Feb. 2021, p. 19. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1038\/s41525-021-00176-x\">https:\/\/doi.org\/10.1038\/s41525-021-00176-x<\/a>.<\/li>\n<li>Faye, Fatoumata, et al. \u2018Time to Diagnosis and Determinants of Diagnostic Delays of People Living with a Rare Disease: Results of a Rare Barometer Retrospective Patient Survey\u2019. European Journal of Human Genetics, vol. 32, no. 9, Sept. 2024, pp. 1116\u201326. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1038\/s41431-024-01604-z\">https:\/\/doi.org\/10.1038\/s41431-024-01604-z<\/a>.<\/li>\n<li>Laing, Nigel G., et al. \u2018Genetic Neuromuscular Disorders: What Is the Best That We Can Do?\u2019 Neuromuscular Disorders, vol. 31, no. 10, Oct. 2021, pp. 1081\u201389. DOI.org (Crossref), <a href=\"https:\/\/doi.org\/10.1016\/j.nmd.2021.07.007\">https:\/\/doi.org\/10.1016\/j.nmd.2021.07.007<\/a>.<\/li>\n<li><a href=\"https:\/\/www.info.pmda.go.jp\/downfiles\/md\/PDF\/200880\/200880_28B3X10006000050_A_01_01.pdf\">https:\/\/www.info.pmda.go.jp\/downfiles\/md\/PDF\/200880\/200880_28B3X10006000050_A_01_01.pdf<\/a><\/li>\n<\/ul>\n<\/div>\n<style>\nfigure{\n  max-width:800px;\n  margin:0 auto;\n  text-align:center;\n}\n.sanko ul{\n  font-size:0.8rem;\n}\n.sanko ul li{\n  line-height:1.2;\n}\n<\/style>\n\n\n\n<section>\n    <h2>Testing Process<\/h2>\n    <p style=\"text-align:center;\">Carrier Screening Test 231 is completed in 3 simple steps: applying at the clinic, collecting a buccal (inner cheek) swab, and receiving email results approximately 3 weeks later.<\/p>\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\">Apply for the Test at the Clinic<\/p>\n                <span class=\"txt\">At the time of application, consent forms must be filled out by both the expectant mother and her partner.<br>The testing kit will be provided during your visit.<br>\u203bBoth the pregnant mother and her partner must visit the clinic together.<\/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\">The testing kit arrives at your home<\/p> -->\n                <span class=\"txt\">Rub the shaft of the testing swab against the inner cheek mucosa (inside the mouth) to collect cells.<br>\u203bPlease refrain from smoking, eating, drinking, brushing teeth, or chewing gum within 30 minutes prior to collection.<br>Hand in the collected sample at the clinic before leaving.<\/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\">Test Results Notification<\/p>\n                <span class=\"txt\">Results will be delivered via email approximately 3 weeks later.<br>\u203bThis report is separate from the results of the maternal blood test.<br>\u203bThe test results will be ready approximately 3 weeks after the sample arrives at the laboratory.<\/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\">Return the Testing Kit<\/p>\n                <span class=\"txt\">Place the collected sample in the Letter Pack envelope and post it in a nearby mailbox.<\/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\">Test Results Notification<\/p>\n                <span class=\"txt\">Results will be sent via email approximately 1 month later.<br>\u203bThis report is separate from the domestic test results obtained via the expectant mother's blood sample.<br>\u203bThe test report will be provided approximately 1 month after the returned kit arrives at the laboratory.<\/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>Optional Pricing for<br class=\"sp-only\">Carrier Screening Test 231<\/h2>\n   <p style=\"text-align:center;margin:0 auto;max-width:800px;\">When ordered together with <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, Carrier Screening Test 231 is available at a discounted optional price. Standalone testing is also available.<\/p>\n   <div class=\"button_moji\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/option\/?lang=en\">Click Here for Optional Pricing<\/a><\/div>\n <\/div>\n    \n    \n <div class=\"box_content\" style=\"text-align:center;\">\n    <div class=\"image-container\">\n        <div class=\"pc-only\">\n            <img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/07\/228-plan-en.webp\" alt=\"Testing for Up to 231 Recessive Genetic Disorders PC View\">\n            \n            <\/div>\n            <div class=\"sp-only\">\n            <img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/228-plan-sp.webp\" alt=\"Testing for 228 Recessive Genetic Disorders Mobile View\">\n            <\/div>\n    <\/div>\n   <\/div>\n   \n   <style>\n    .button_moji {\n        font-weight: 700;\n        font-size: 1.6rem;\n        text-align: center;\n    }\n    .button_moji {\n        color: #e54c84;\n        background-color: #fff;\n        border-bottom: 5px solid #e54c84;\n        width: 60%;\n        margin:0 auto;\n    }\n    .button_moji {\n    border: 6px ridge #de0c59;\n  }\n    .box_content img {\n        width: 100%;\n    }\n   .plan_list{\n     text-align: center;\n     font-weight: 700;\n     color: #e54c84;\n     padding-top: 50px;\n   }\n   .image-container {\n     display: inline-block;\n     cursor: pointer;\n     text-align: center;\n   }\n   \n   .small-image {\n     width: 100%;\n   }\n   @media screen and (max-width: 700px) {\n      .pc-only {\n        display: none;\n      }\n    }\n    @media screen and (min-width: 701px) {\n      .sp-only {\n        display: none;\n      }\n    }\n   <\/style>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"section-separator\">\n<h2 class=\"wp-block-heading\">How Recessive Genetic Disorders Develop<\/h2>\n<p>Humans have two copies of each chromosome: one inherited from the mother and one from the father.<\/p>\n<p>A recessive genetic disorder occurs when there is a mutation in the genes located at the same position on both of these chromosomes. If only one chromosome\u2014either from the mother or the father\u2014has a mutation, but the corresponding gene on the other chromosome is normal, the disorder will not develop. As long as one copy is normal, the individual will not become ill, and that person is referred to as a &#8220;carrier.&#8221;<\/p>\n<p>The risk increases when biological relatives have children together because the likelihood of sharing the same carrier status is higher among relatives. For example, in a rare condition that affects 1 in 40,000 individuals, the carrier rate is estimated to be approximately 1 in 100. This is based on the calculation: 1\/100 \u00d7 1\/100 \u00d7 1\/4 = 1\/40,000. Therefore, if you test for 100 different conditions, <strong>it is likely that almost everyone is a carrier of at least one condition<\/strong>.<\/p>\n<p>So, what happens if our clinic&#8217;s test detects a mutation at the exact same gene location in both parents?<\/p>\n<p>If both parents happen to carry a mutation in the same gene, their child is at risk for developing a recessive genetic disorder. This is because there is no normal copy at that gene location, making disease onset possible.<\/p>\n<div style=\"border: 1px dotted #e54c84; padding: 1rem 2rem; max-width: 400px; margin-bottom: 1rem;\">\n    <ul>\n      <li>1 in 4 fetuses (25%) will be affected.<\/li>\n      <li>1 in 2 fetuses (50%) will be carriers.<\/li>\n      <li>1 in 4 fetuses (25%) will be unaffected.<\/li>\n    <\/ul>\n  <\/div>\n<p>How can we check if the baby has inherited these mutations?<\/p>\n<p><strong>One of the most accurate methods to detect genetic abnormalities is amniocentesis.<\/strong> In this test, genetic analysis is performed using fetal cells obtained from the amniotic fluid.<\/p>\n<p>By enrolling in our Amniocentesis Support program, you can receive up to \u00a5300,000 (tax included) in subsidies depending on your plan. In many cases, this covers the entire cost of the amniocentesis, allowing you to undergo the test at no out-of-pocket expense.<br>If you wish to undergo testing, please contact Hiro Clinic.<\/p>\n<\/div>\n<\/div><\/div>\n\n\n\n<div class=\"newcta\">\n <a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\">\n  <p class=\"jisseki mincho\">Our NIPT Track Record <span class=\"big\">Over 75,000<span> cases<\/span><\/span><\/p>\n  <p class=\"res-btn\">Check Availability &#038; Book Now<\/p>\n <\/a>\n<\/div>\n<style>\n.newcta{\n  margin:1rem auto 2rem;\n}\n.newcta a{\n  width:100%;\n  max-width:500px;\n  margin:0 auto;\n  display:block;\n  text-decoration:none;\n  text-align:center;\n}\n.newcta p{\n  margin:0 auto;\n}\n.newcta .jisseki{\n  margin:0 auto;\n  position:relative;\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n  background: linear-gradient(to bottom, #b68d3c 0%, #e2b95f 35%, #b68d3c);\n  -webkit-background-clip: text;\n  color: rgba(0,0,0,0);\n  font-weight:bold;\n  display:inline-flex;\n  flex-wrap:wrap;\n  align-items:center;\n  justify-content:center;\n  gap:.5rem;\n  padding-bottom:1rem;\n}\n.newcta .jisseki span{\n  font-size:2rem;\n}\n.newcta .jisseki span span{\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n}\n.newcta .res-btn{\n  display:inline-block;\n  background:#f0a3b8;\n  padding:1.5rem 2rem;\n  text-align:center;\n  border-radius:1rem;\n  box-shadow:0 .5rem .5rem #f0a3b866;\n  color:#fff;\n  font-size:1.2rem;\n  font-weight:bold;\n  letter-spacing:.2rem;\n  min-width:320px;\n}\n@media screen and (max-width:500px){\n  .newcta .jisseki .big{\n    width:100%;\n  }\n  .newcta .res-btn{\n    padding:1.5rem 0;\n  }\n}\n<\/style>\n<div class=\"old-cta\">\n<div class=\"container\" style=\"padding:10px\">\n<div class=\"nipt-bnr mincho\">\n<a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\">\n<p class=\"jisseki font-s gothic\">Our NIPT Track Record<\/p>\n<p class=\"total font-m\"><span class=\"gold font-l\">68,000<\/span> cases<\/p>\n<p class=\"res font-s gothic\">Book an Appointment \u25b6\ufe0e\u25b6\ufe0e\u25b6\ufe0e<\/p>\n<\/a>\n<\/div>\n<\/div>\n<\/div>\n<div class=\"content-center\" style=\"max-width:1200px;margin:0 auto;width:90%\">\n <div class=\"image-text-block\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/20th-anniversary\/?lang=en\" style=\"max-width:825px;margin:0.5rem auto\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/06\/forplan_btn-en-1.webp\" style=\"width:100%\"><\/a>\n <\/div>\n<\/div>\n<style>\n.old-cta{\n  display:none;\n}\n.nipt-bnr{\n  display:flex;\n  justify-content:center;\n  align-items:center;\n  width:calc(100% - 3rem);\n  min-width:350px;\n  max-width:480px;\n  aspect-ratio:11 \/ 5;\n  position:relative;\n  margin:1rem auto;\n  background-image:linear-gradient(to bottom,#63513c,#63513c,#feef7b,#63513c,#63513c);\n  border-radius:8px;\n  box-shadow:6px 6px 6px #999;\n}\n.nipt-bnr .gold{\n  background:linear-gradient(to bottom,#d1ac60,#e8ca74 50%,#d29e30,#ac7726);\n  -webkit-background-clip: text;\n  -webkit-text-fill-color: transparent;\n  font-weight:bold;\n}\n.cta-btn-nipt-reservation-wimg{\n  text-decoration:none;\n  border-bottom:initial;\n}\n.label-link {\n  align-items: center;\n  text-decoration: none;\n  gap: 8px;\n}\n.image-text-block {\n  text-align: center;\n}\n.tittle_price{\n font-weight:900;\n font-size:2rem;\n color:#e54c84;\n text-align:center;\n border-bottom:none;\n margin-bottom:-10px;\n}\n.box_11 {\n  width: 12px;\n  height: 12px;\n  background-color: #e54c84;\n  border-radius: 2px;\n  flex-shrink: 0;\n}\n.center-container {\n  text-align: center;\n}\n.label-box{\ndisplay:block;\nfont-size:1.3rem !important;\nfont-weight:900;\ncolor:#e54c84;\ntext-align:right;\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\">Recessive Genetic Disorders Identified by Hiro Clinic NIPT<\/h2>\n<\/div><\/div>\n\n\n\n<p style=\"max-width:820px;margin:0 auto 1rem;\">Carrier Screening Test 231 examines causative genes for up to 231 types of recessive genetic disorders. You can also view detailed pages by clicking on the disease name of interest.<\/p>\n<div class=\"disease_list_holder\">\n    <table class=\"disease_list\">\n        <tr>\n            <th>Disease Name (JP)<\/th>\n            <th>Disease Name (EN)<\/th>\n            <th>Genes Tested at Our Clinic<\/th>\n            <th>Chromosome Location<\/th>\n            <th>Detailed Information<\/th>\n        <\/tr>\n        <tr>\n            <td>3-\u30d2\u30c9\u30ed\u30ad\u30b7-3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30eb\u9178\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/901\">3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HMGCL&#038;keywords=HMGCL\">HMGCL<\/a><\/td>\n            <td><a href=\"\">1p36.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/3-hydroxy-3-methylglutaryl-coenzyme-a-lyase-deficiency\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e9\u30a4\u30c7\u30a3\u30c3\u30d2\u7d30\u80de\u5f62\u6210\u4e0d\u5168(\u9ec4\u4f53\u5f62\u6210\u30db\u30eb\u30e2\u30f3\u62b5\u6297\u6027)<\/td>\n            <td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/leydig-cell-hypoplasia\/\">Leydig Cell Hypoplasia [Luteinizing Hormone Resistance]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LHCGR&#038;keywords=LHCGR\">LHCGR<\/a><\/td>\n            <td><a href=\"\">2p16.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leydig-cell-hypoplasia-luteinizing-hormone-resistance\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>3-\u30e1\u30c1\u30eb\u30af\u30ed\u30c8\u30cb\u30ebCoA\u30ab\u30eb\u30dc\u30ad\u30b7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_02_027\/\">3-Methylcrotonyl-CoA Carboxylase Deficiency 1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MCCC1&#038;keywords=MCCC1\">MCCC1<\/a><\/td>\n            <td><a href=\"\">3q27.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/3-methylcrotonyl-coa-carboxylase-deficiency-1\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u2161E\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4523\">Limb Girdle Muscular Dystrophy, Type 2E<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SGCB&#038;keywords=SGCB\">SGCB<\/a><\/td>\n            <td><a href=\"\">4q12<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2e\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8907\u5408\u30ab\u30eb\u30dc\u30ad\u30b7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_02_032\/\">3-Methylcrotonyl-CoA Carboxylase Deficiency 2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MCCC2&#038;keywords=MCCC2\">MCCC2<\/a><\/td>\n            <td><a href=\"\">5q13.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/3-methylcrotonyl-coa-carboxylase-deficiency-2\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b8\u30d2\u30c9\u30ed\u30ea\u30dd\u30a2\u30df\u30c9\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7(\u30e1\u30fc\u30d7\u30eb\u30b7\u30ed\u30c3\u30d7\u5c3f\u75c7III\u578b)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4813\">Lipoamide Dehydrogenase Deficiency [Maple Syrup Urine Disease, Type 3]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DLD&#038;keywords=DLD\">DLD<\/a><\/td>\n            <td><a href=\"\">7q31.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lipoamide-dehydrogenase-deficiency-maple-syrup-urine-disease-type-3\/\">Click here for details on this condition<\/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\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ea\u30dd\u30bf\u30f3\u30d1\u30af\u8cea\u30ea\u30d1\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4884\">Lipoprotein Lipase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LPL&#038;keywords=LPL\">LPL<\/a><\/td>\n            <td><a href=\"\">8p21.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lipoprotein-lipase-deficiency\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30b7\u30ebCoA\u30aa\u30ad\u30b7\u30c0\u30fc\u30bcI\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4622\">Acyl-CoA Oxidase I Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ACOX1&#038;keywords=ACOX1\">ACOX1<\/a><\/td>\n            <td><a href=\"\">17q25.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/acyl-coa-oxidase-i-deficiency\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30aa\u30fc\u30e1\u30f3\u75c7\u5019\u7fa4(RAG2\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/254\">Omenn Syndrome (RAG2-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RAG2&#038;keywords=RAG2\">RAG2<\/a><\/td>\n            <td><a href=\"\">11p12<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/omenn-syndrome-rag2-related\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u795e\u7d4c\u6709\u68d8\u8d64\u8840\u7403\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4051\">Chorea-acanthocytosis<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=VPS13A&#038;keywords=VPS13A\">VPS13A<\/a><\/td>\n            <td><a href=\"\">9q21.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=VPS13A&#038;keywords=VPS13A\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30aa\u30eb\u30cb\u30c1\u30f3\u30a2\u30df\u30ce\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/841\">Ornithine Aminotransferase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=OAT&#038;keywords=OAT\">OAT<\/a><\/td>\n            <td><a href=\"\">10q26.13<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ornithine-aminotransferase-deficiency\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>X\u9023\u9396\u6027\u8108\u7d61\u819c\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/196\">Choroideremia, X-Linked<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CHM&#038;keywords=CHM\">CHM<\/a><\/td>\n            <td><a href=\"\">Xq21.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/choroideremia-x-linked\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9ad8\u30aa\u30eb\u30cb\u30c1\u30f3\u8840\u75c7-\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7-\u30db\u30e2\u30b7\u30c8\u30eb\u30ea\u30f3\u8840\u75c7\uff08HHH\uff09\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/841\">Ornithine Translocase Deficiency Hyperornithinemia-Hyperammonemia -Homocitrullinuria (HHH) Syndrome]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC25A15&#038;keywords=SLC25A15\">SLC25A15<\/a><\/td>\n            <td><a href=\"\">13q14.11<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ornithine-translocase-deficiency-hyperornithinemia-hyperammonemia\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b7\u30c8\u30ea\u30f3\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5434\">Citrin Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC25A13&#038;keywords=SLC25A13\">SLC25A13<\/a><\/td>\n            <td><a href=\"\">7q21.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/citrin-deficiency\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30da\u30f3\u30c9\u30ec\u30c3\u30c9\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/3147\">Pendred Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC26A4&#038;keywords=SLC26A4\">SLC26A4<\/a><\/td>\n            <td><a href=\"\">7q22.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pendred-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c73<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/335\">Combined Oxidative Phosphorylation Deficiency 3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TSFM&#038;keywords=TSFM\">TSFM<\/a><\/td>\n            <td><a href=\"\">12q14.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/combined-oxidative-phosphorylation-deficiency-3\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30bc\u30eb\u30a6\u30a7\u30fc\u30ac\u30fc\u30b9\u30da\u30af\u30c8\u30eb\u75c7\u5019\u7fa4\uff08PEX1\uff09<\/td>\n            <td><a href=\"https:\/\/www.genedx.com\/\">Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX1&#038;keywords=PEX1\">PEX1<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pendred-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u7570\u5e38\u75c7\u2160\u578b(PMM2\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5410\">Congenital Disorder of Glycosylation, Type 1A (PMM2-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PMM2&#038;keywords=PMM2\">PMM2<\/a><\/td>\n            <td><a href=\"\">16p13.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-disorder-of-glycosylation-type-1a-pmm2-related\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30bc\u30eb\u30a6\u30a7\u30fc\u30ac\u30fc\u30b9\u30da\u30af\u30c8\u30eb\u75c7\u5019\u7fa4\uff08PEX2\uff09<\/td>\n            <td><a href=\"https:\/\/www.genedx.com\/\">Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX2-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX2&#038;keywords=PEX2\">PEX2<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pendred-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u907a\u4f1d\u6027\u30d5\u30eb\u30af\u30c8\u30fc\u30b9\u4e0d\u8010\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/instructions\/08_05_059\/\">Hereditary Fructose Intolerance<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ALDOB&#038;keywords=ALDOB\">ALDOB<\/a><\/td>\n            <td><a href=\"\">9q31.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hereditary-fructose-intolerance\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30c4\u30a7\u30eb\u30a6\u30a7\u30ac\u30fc\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4622\">Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX1&#038;keywords=PEX1\">PEX1<\/a><\/td>\n            <td><a href=\"\">7q21.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-syndrome-spectrum-pex1-related\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7cblE\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4860\">Homocystinuria, Type cblE<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MTRR&#038;keywords=MTRR\">MTRR<\/a><\/td>\n            <td><a href=\"\">5p15.31<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/homocystinuria-type-cble\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>X\u9023\u9396\u91cd\u75c7\u8907\u5408\u514d\u75ab\u4e0d\u5168\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/10_01_001\/#:~:text=%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\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30cf\u30a4\u30c9\u30ed\u30ec\u30bf\u30e9\u30b9\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hydrolethalus-syndrome\/\">Hydrolethalus Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HYLS1&#038;keywords=HYLS1\">HYLS1<\/a><\/td>\n            <td><a href=\"\">11q24.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/?lang=en\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u938c\u72b6\u8d64\u8840\u7403\u75c7<\/td>\n            <td><a href=\"https:\/\/www.msdmanuals.com\/ja-jp\/%E3%83%9B%E3%83%BC%E3%83%A0\/13-%E8%A1%80%E6%B6%B2%E3%81%AE%E7%97%85%E6%B0%97\/%E8%B2%A7%E8%A1%80\/%E9%8E%8C%E7%8A%B6%E8%B5%A4%E8%A1%80%E7%90%83%E7%97%87#:~:text=%E9%8E%8C%E7%8A%B6%E8%B5%A4%E8%A1%80%E7%90%83%E7%97%87%E3%81%AF,%E9%BB%84%E7%96%B8%E3%81%8C%E3%81%BF%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%80%82\">Sickle-Cell Disease<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HBB&#038;keywords=HBB\">HBB<\/a><\/td>\n            <td><a href=\"\">11p15.4<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sickle-cell-disease\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5c01\u5165\u4f53\u30df\u30aa\u30d1\u30c1\u30fc\u2161\u578b(GNE\u30df\u30aa\u30d1\u30c1\u30fc)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4002\">Inclusion Body Myopathy, Type 2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GNE&#038;keywords=GNE\">GNE<\/a><\/td>\n            <td><a href=\"\">9p13.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/inclusion-body-myopathy-type-2\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b7\u30a7\u30fc\u30b0\u30ec\u30f3\u30fb\u30e9\u30eb\u30bd\u30f3\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/288\">Sj\u00f6gren-Larsson Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ALDH3A2&#038;keywords=ALDH3A2\">ALDH3A2<\/a><\/td>\n            <td><a href=\"\">17p11.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sjogren-larsson-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a4\u30bd\u5409\u8349\u9178\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4817\">Isovaleric Acidemia<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=IVD&#038;keywords=IVD\">IVD<\/a><\/td>\n            <td><a href=\"\">15q15.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/isovaleric-acidemia\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u4e00\u6b21\u6027\u30cd\u30d5\u30ed\u30fc\u30bc\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4516\">Steroid-Resistant Nephrotic Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NPHS2&#038;keywords=NPHS2\">NPHS2<\/a><\/td>\n            <td><a href=\"\">1q25.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/steroid-resistant-nephrotic-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7MUT0\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4859\">Methylmalonic Aciduria, Type Mut(0)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MMUT\">MMACHC<\/a><\/td>\n            <td><a href=\"\">1p34.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-aciduria-type-mut0\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b9\u30c8\u30a5\u30fc\u30d6\u30fb\u30a6\u30a3\u30fc\u30c9\u30e1\u30f3\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/3958\">Stuve-Wiedemann Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LIFR&#038;keywords=LIFR\">LIFR<\/a><\/td>\n            <td><a href=\"\">5p13.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/stuve-wiedemann-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u3092\u4f34\u3046\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7cblD\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4859\">Methylmalonic Aciduria and Homocystinuria, Type cblD<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MMACHC&#038;keywords=MMACHC\">MMADHC<\/a><\/td>\n            <td><a href=\"\">2q23.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-aciduria-and-homocystinuria-type-cbld\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d0\u30eb\u30c7\u30fc\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4(BBS12\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/858\">Bardet Biedl Syndrome (BBS12-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BBS12&#038;keywords=BBS12\">BBS12<\/a><\/td>\n            <td><a href=\"\">4q27<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bardet-biedl-syndrome-bbs12-related\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e0\u30b3\u591a\u7cd6\u75c7\u2161\u578b(\u30cf\u30f3\u30bf\u30fc\u75c7\u5019\u7fa4\u3001X\u9023\u9396\u6027)<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_076\/\">Mucopolysaccharidosis, Type II [Hunter Syndrome], X-Linked<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=IDS&#038;keywords=IDS\">IDS<\/a><\/td>\n            <td><a href=\"\">Xq28<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-type-ii-hunter-syndrome-x-linked\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d9\u30fc\u30bf\u30b5\u30e9\u30bb\u30df\u30a2<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/847\">Beta Thalassemia<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HBB&#038;keywords=HBB\">HBB<\/a><\/td>\n            <td><a href=\"\">11p15.4<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/beta-thalassemia\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e0\u30b3\u591a\u7cd6\u75c7III\u578b(\u30b5\u30f3\u30d5\u30a3\u30ea\u30c3\u30dd\u75c7\u5019\u7fa4\uff09<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_077\/\">Mucopolysaccharidosis, Type IIIC [Sanfilippo C]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HGSNAT&#038;keywords=HGSNAT\">HGSNAT<\/a><\/td>\n            <td><a href=\"\">8p11.21-p11.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-type-iiic-sanfilippo-c\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d3\u30aa\u30c1\u30cb\u30c0\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4826\">Biotinidase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BTD&#038;keywords=BTD\">BTD<\/a><\/td>\n            <td><a href=\"\">3p25.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/biotinidase-deficiency\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30de\u30eb\u30c1\u30d7\u30eb\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_094\/\">Multiple Sulfatase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SUMF1&#038;keywords=SUMF1\">SUMF1<\/a><\/td>\n            <td><a href=\"\">3p26<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/multiple-sulfatase-deficiency\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ab\u30ca\u30d0\u30f3\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/636\">Canavan Disease<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ASPA&#038;keywords=ASPA\">ASPA<\/a><\/td>\n            <td><a href=\"\">17p13.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/canavan-disease\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\uff08DNAH5\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/254\">Primary Ciliary Dyskinesia (DNAH5-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DNAH5&#038;keywords=DNAH5\">DNAH5<\/a><\/td>\n            <td><a href=\"\">5p15.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-ciliary-dyskinesia-dnah5-related\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ab\u30fc\u30da\u30f3\u30bf\u30fc\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4679\">Carpenter Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RAB23&#038;keywords=RAB23\">RAB23<\/a><\/td>\n            <td><a href=\"\">6p12.1-p11.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/carpenter-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\uff08DNAI1\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/03_05_007\/\">Primary Ciliary Dyskinesia (DNAI1-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DNAI1&#038;keywords=DNAI1\">DNAI1<\/a><\/td>\n            <td><a href=\"\">14q24.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-ciliary-dyskinesia-dnai1-related\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7cd6\u539f\u75c5\u2160\u578b(Ia)<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_05_066\/\">Glycogen Storage Disease, Type 1A(BBS12-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=G6PC1\">G6PC<\/a><\/td>\n            <td><a href=\"\">17q21<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-1a\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u767a\u6027\u9ad8\u30b7\u30e5\u30a6\u9178\u5c3f\u75c73\u578b<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_02_035\/\">Primary Hyperoxaluria, Type 3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HOGA1&#038;keywords=HOGA1\">HOGA1<\/a><\/td>\n            <td><a href=\"\">10q24.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-hyperoxaluria-type-3%e3%80%80\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7cd6\u539f\u75c5\u2160\u578b(Ib)<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_05_066\/\">Glycogen Storage Disease, Type 1B<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC37A4&#038;keywords=SLC37A4\">SLC37A4<\/a><\/td>\n            <td><a href=\"\">11q23.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-1b\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6fc3\u5316\u7570\u9aa8\u75c7<\/td>\n            <td><a href=\"https:\/\/webview.isho.jp\/journal\/detail\/abs\/10.11477\/mf.1408904556\">Pycnody sostosis<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CTSK&#038;keywords=CTSK\">CTSK<\/a><\/td>\n            <td><a href=\"\">1q21.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pycnody-sostosis\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7cd6\u539f\u75c5\u2162\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/41\">Glycogen Storage Disease, Type 3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AGL&#038;keywords=AGL\">AGL<\/a><\/td>\n            <td><a href=\"\">1p21.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-type-3\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d4\u30eb\u30d3\u30f3\u9178\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4826\">Pyruvate Dehydrogenase Deficiency (PDHB-Related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PDHB&#038;keywords=PDHB\">PDHB<\/a><\/td>\n            <td><a href=\"\">3p14.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pyruvate-dehydrogenase-deficiency-pdhb-related\/\">Click here for details on this condition<\/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\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a8\u30ab\u30eb\u30c7\u30a3\u30fb\u30b0\u30c6\u30a3\u30a8\u30fc\u30eb\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/2364\">Aicardi-Gouti\u00e8res Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SAMHD1&#038;keywords=SAMHD1\">SAMHD1<\/a><\/td>\n            <td><a href=\"\">20q11.23<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/aicardi-goutieres-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b0\u30ec\u30a4\u30b7\u30eb\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/gracile-syndrome\/\">GRACILE Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BCS1L&#038;keywords=BCS1L\">BCS1L<\/a><\/td>\n            <td><a href=\"\">2q35<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/gracile-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4348\">Alport Syndrome, X-Linked<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=COL4A5&#038;keywords=COL4A5\">COL4A5<\/a><\/td>\n            <td><a href=\"\">Xq22.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alport-syndrome-x-linked\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9577\u93963-\u30d2\u30c9\u30ed\u30ad\u30b7\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5432\">Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HADHA&#038;keywords=HADHA\">HADHA<\/a><\/td>\n            <td><a href=\"\">2p23<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30eb\u30b9\u30c8\u30ec\u30fc\u30e0\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/academic-accelerator.com\/Manuscript-Generator\/jp\/Alstrom-Syndrome\">Alstrom Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ALMS1&#038;keywords=ALMS1\">ALMS1<\/a><\/td>\n            <td><a href=\"\">2p13.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alstrom-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ea\u30b8\u30f3\u5c3f\u6027\u86cb\u767d\u4e0d\u8010\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4681\">Lysinuric Protein Intolerance<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC7A7&#038;keywords=SLC7A7\">SLC7A7<\/a><\/td>\n            <td><a href=\"\">14q11.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lysinuric-protein-intolerance\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30f3\u30c0\u30fc\u30de\u30f3\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/andermann-syndrome\/#frequency\">Andermann Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC12A6&#038;keywords=SLC12A6\">SLC12A6<\/a><\/td>\n            <td><a href=\"\">15q14<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/andermann-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e1\u30fc\u30d7\u30eb\u30b7\u30ed\u30c3\u30d7\u5c3f\u75c7\u2160B\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4814\">Maple Syrup Urine Disease, Type 1B<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BCKDHB&#038;keywords=BCKDHB\">BCKDHB<\/a><\/td>\n            <td><a href=\"\">6q14.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/maple-syrup-urine-disease-type-1b\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30ed\u30de\u30bf\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/1536\">Aromatase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CYP19A1&#038;keywords=CYP19A1\">CYP19A1<\/a><\/td>\n            <td><a href=\"\">15q21.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/aromatase-deficiency\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7(MMAA\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4859\">Methylmalonic Acidemia (MMAA-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MMAA&#038;keywords=MMAA\">MMAA<\/a><\/td>\n            <td><a href=\"\">4q31.21<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-acidemia-mmaa-related\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u91cd\u75c7\u5148\u5929\u6027\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7 (HAX1\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/10_05_035\/\">Congenital Neutropenia (HAX1-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HAX1&#038;keywords=HAX1\">HAX1<\/a><\/td>\n            <td><a href=\"\">1q21.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-neutropenia-hax1-related\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30af\u30ea\u30b0\u30e9\u30fc\u30fb\u30ca\u30b8\u30e3\u30fc\u75c7\u5019\u7fa4\u2160\u578b<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/12_11_034\/\">Crigler Najjar Syndrome, Type I<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=UGT1A1&#038;keywords=UGT1A1\">UGT1A1<\/a><\/td>\n            <td><a href=\"\">2q37.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/crigler-najjar-syndrome-type-i\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30c4\u30a7\u30eb\u30a6\u30a7\u30ac\u30fc\u75c7\u5019\u7fa4\uff08PEX2\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4622\">Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX2-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX2&#038;keywords=PEX2\">PEX2<\/a><\/td>\n            <td><a href=\"\">8q21.13<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-syndrome-spectrum-pex2-related\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u56a2\u80de\u6027\u7dda\u7dad\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4532\">Cystic Fibrosis<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CFTR&#038;keywords=CFTR\">CFTR<\/a><\/td>\n            <td><a href=\"\">7q31.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/cystic-fibrosis\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d5\u30a7\u30cb\u30eb\u30b1\u30c8\u30f3\u5c3f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4747\">Phenylketonurea<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PAH&#038;keywords=PAH\">PAH<\/a><\/td>\n            <td><a href=\"\">12q23.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/phenylketonurea\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7b2cXI\u56e0\u5b50\u6b20\u4e4f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/09_21_043\/\">Factor XI Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=F11&#038;keywords=F11\">F11<\/a><\/td>\n            <td><a href=\"\">4q35.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/factor-xi-deficiency\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6a4b\u5c0f\u8133\u5f62\u6210\u4e0d\u51681A\u578b<\/td>\n            <td><a href=\"https:\/\/www.malacards.org\/card\/pontocerebellar_hypoplasia_type_1a_2\">Pontocerebellar Hypoplasia, Type 1A<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=VRK1&#038;keywords=VRK1\">VRK1<\/a><\/td>\n            <td><a href=\"\">14q32.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-type-1a\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5bb6\u65cf\u6027\u81ea\u5f8b\u795e\u7d4c\u5931\u8abf\u75c7<\/td>\n            <td><a href=\"https:\/\/www.kyoto-u.ac.jp\/ja\/research-news\/2021-07-28-2\">Familial Dysautonomia<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ELP1\">IKBKAP<\/a><\/td>\n            <td><a href=\"\">9q31.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/familial-dysautonomia\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6a4b\u5c0f\u8133\u5f62\u6210\u4e0d\u51682D\u578b<\/td>\n            <td><a href=\"https:\/\/www.malacards.org\/card\/pontocerebellar_hypoplasia_type_2d_2\">Pontocerebellar Hypoplasia, Type 2D<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SEPSECS&#038;keywords=SEPSECS\">SEPSECS<\/a><\/td>\n            <td><a href=\"\">4p15.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-type-2d\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u95a2\u9023\u75be\u60a3<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4552\">Joubert Syndrome, Type 2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TMEM216&#038;keywords=TMEM216\">LAMC2<\/a><\/td>\n            <td><a href=\"\">1q25.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-type-2\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6a4b\u5c0f\u8133\u5f62\u6210\u4e0d\u51682E\u578b<\/td>\n            <td><a href=\"https:\/\/www.malacards.org\/card\/pontocerebellar_hypoplasia_type_2e?search=Pontocerebellar%20Hypoplasia%2C%20Type%202E#sources\">Pontocerebellar Hypoplasia, Type 2E<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=VPS53&#038;keywords=VPS53\">VPS53<\/a><\/td>\n            <td><a href=\"\">17p13.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-type-2e\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u63a5\u5408\u90e8\u578b\u8868\u76ae\u6c34\u75b1\u75c7(\u30d8\u30eb\u30ea\u30c3\u30c4\u578b)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5339\">Junctional Epidermolysis Bullosa, Herlitz Type<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LAMC2&#038;keywords=LAMC2\">LAMC2<\/a><\/td>\n            <td><a href=\"\">1q25.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/junctional-epidermolysis-bullosa-herlitz-type\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30c6\u30a4\u30b5\u30c3\u30af\u30b9\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Tay-Sachs Disease<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HEXA&#038;keywords=HEXA\">HEXA<\/a><\/td>\n            <td><a href=\"\">15q23<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/tay-sachs-disease\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8449\u72b6\u9b5a\u9c57\u766c\u2160\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/139\">Lamellar Ichthyosis, Type 1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TGM1&#038;keywords=TGM1\">TGM1<\/a><\/td>\n            <td><a href=\"\">14q12<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lamellar-ichthyosis-type-1\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa4\u30bf\u30a4\u30d71F<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4624\">Usher Syndrome, Type 1F<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PCDH15&#038;keywords=PCDH15\">PCDH15<\/a><\/td>\n            <td><a href=\"\">10q21.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/usher-syndrome-type-1f\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ec\u30fc\u30d9\u30eb\u5148\u5929\u6027\u9ed2\u5185\u969c(LCA5\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4660\">Leber Congenital Amaurosis (LCA5-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LCA5&#038;keywords=LCA5\">LCA5<\/a><\/td>\n            <td><a href=\"\">6q14.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leber-congenital-amaurosis-lca5-related\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa4\u30bf\u30a4\u30d73<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4624\">Usher Syndrome, Type 3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CLRN1&#038;keywords=CLRN1\">CLRN1<\/a><\/td>\n            <td><a href=\"\">3q25.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/usher-syndrome-type-3\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ea\u30fc\u8133\u75c7(\u30d5\u30e9\u30f3\u30b9-\u30ab\u30ca\u30c0\u578b\uff09<\/td>\n            <td><a href=\"\">Leigh Syndrome, French-Canadian Type<\/a><\/td>\n            <td><a href=\"\">LRPPRC<\/a><\/td>\n            <td><a href=\"\">2p21<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leigh-syndrome-french-canadian-type\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a6\u30a9\u30eb\u30de\u30f3\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Wolman Disease<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LIPA&#038;keywords=LIPA\">LIPA<\/a><\/td>\n            <td><a href=\"\">10q23.31<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/wolman-disease\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>X\u9023\u9396\u6027\u30df\u30aa\u30c1\u30e5\u30d6\u30e9\u30fc\u30df\u30aa\u30d1\u30c1\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4726\">Myotubular Myopathy, X-Linked<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MTM1&#038;keywords=MTM1\">MTM1<\/a><\/td>\n            <td><a href=\"\">Xq28<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/myotubular-myopathy-x-linked\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u5c3f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5449\">3-Methylglutaconic Aciduria, Type 3 [Costeff Syndrome], <\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=OPA3&#038;keywords=OPA3\">OPA3<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylglutaconuria\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ca\u30d0\u30db\u795e\u7d4c\u809d\u969c\u5bb3(MPV17\u95a2\u9023\u306e\u809d\u8133\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u67af\u6e07\u75c7\u5019\u7fa4)<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/mpv17_mtDNADS.htm\">Navajo Neurohepatopathy [MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MPV17&#038;keywords=MPV17\">MPV17<\/a><\/td>\n            <td><a href=\"\">2p23.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/navajo-neurohepatopathy-mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7121\u03b2\u30ea\u30dd\u30bf\u30f3\u30d1\u30af\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4574\">Abetalipoproteinemia<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MTTP&#038;keywords=MTTP\">MTTP<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/beta-lipoproteinemia\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6025\u6027\u4e73\u5e7c\u5150\u809d\u4e0d\u5168(TRMU\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/12_06_019\/\">Acute Infantile Liver Failure (TRMU-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TEMU&#038;keywords=TEMU\">TEMU<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/acute-infantile-liver-failure\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7(CLN8\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/cln8-disease\/\">Neuronal Ceroid Lipofuscinosis (CLN8-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CLN8&#038;keywords=CLN8\">CLN8<\/a><\/td>\n            <td><a href=\"\">8p23<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-cln8-related\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30eb\u30ae\u30cb\u30ce\u30b3\u30cf\u30af\u9178\u30ea\u30a2\u30fc\u30bc\u6b20\u4e4f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4732\">Argininosuccinate Lyase Deficiency, ASL<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ASL&#038;keywords=ASL\">ASL<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/argininosuccinate-lyase-deficiency\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7(MFSD8\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_101\/\">Neuronal Ceroid Lipofuscinosis (MFSD8-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MFSD8&#038;keywords=MFSD8\">MFSD8<\/a><\/td>\n            <td><a href=\"\">4q28.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-mfsd8-related\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6bdb\u7d30\u8840\u7ba1\u62e1\u5f35\u6027\u904b\u52d5\u5931\u8abf\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/2370\">Ataxia-Telangiectasia, ATM<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ATM&#038;keywords=ATM\">ATM<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/telangiectatic-ataxia\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7(TPP1\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/instructions\/08_06_101\/\">Neuronal Ceroid Lipofuscinosis (TPP1-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TPP1&#038;keywords=TPP1\">TPP1<\/a><\/td>\n            <td><a href=\"\">11p15.4<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-tpp1-related\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b7\u30e3\u30eb\u30eb\u30dc\u30ef\u30fb\u30b5\u30b0\u30cd\u306e\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u75d9\u6027\u904b\u52d5\u5931\u8abf\u75c7<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/?lang=en\">Autosomal Recessive Spastic Ataxia of Charlevoix- Saguenay, SACS<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SACS&#038;keywords=SACS\">SACS<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-sacs\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ca\u30a4\u30df\u30fc\u30d8\u30f3\u67d3\u8272\u4f53\u4e0d\u5b89\u5b9a\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/254\">Nijmegen Breakage Syndrome<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NBN&#038;keywords=NBN\">NBN<\/a><\/td>\n            <td><a href=\"\">8q21.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/nijmegen-breakage-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u767a\u6027\u514d\u75ab\u4e0d\u5168\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/254\">Bare Lymphocyte Syndrome (CIITA-related), CIITA<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CIITA&#038;keywords=CIITA\">CIITA<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-immunodeficiency-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4522\">Retinal Dystrophy (RLBP1-related) [Bothnia Retinal Dystrophy]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RLBP1&#038;keywords=RLBP1\">RLBP1<\/a><\/td>\n            <td><a href=\"\">15q26.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinal-dystrophy-rlbp1-related-bothnia-retinal-dystrophy\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>\n            <td><a href=\"https:\/\/jglobal.jst.go.jp\/detail?JGLOBAL_ID=201202267255981122\">\u201cCombined Oxidative Phosphorylation Deficiency 1, GFM1\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GFM1&#038;keywords=GFM1\">GFM1<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondria\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u578b\u5148\u5929\u6027\u30cd\u30d5\u30ed\u30fc\u30bc\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/02_01_001\/\">Congenital Finnish Nephrosis, NPHS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NPHS1&#038;keywords=NPHS1\">NPHS1<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/finnish-congenital-nephrotic-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7-25<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/UR-DBMS\/SyndromeDetail.php?recid=4091&#038;winid=1\">Retinitis Pigmentosa 25 (EYS-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=EYS&#038;keywords=EYS\">EYS<\/a><\/td>\n            <td><a href=\"\">6q12<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-25-eys-related\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/3997\">\u201cCongenital Myasthenic Syndrome (RAPSN-related), RAPSN\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RAPSN&#038;keywords=RAPSN\">RAPSN<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-amyotrophic-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7-59<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/196\">Retinitis Pigmentosa 59 (DHDDS-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DHDDS&#038;keywords=DHDDS\">DHDDS<\/a><\/td>\n            <td><a href=\"\">1p36.11<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-59-dhdds-related\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u89d2\u819c\u5185\u76ae\u6027\u7570\u6804\u990a\u75c7<\/td>\n            <td><a href=\"https:\/\/jglobal.jst.go.jp\/detail?JGLOBAL_ID=201002228375236137\">Corneal Dystrophy and Perceptive Deafness, SLC4A11<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC4A11&#038;keywords=SLC4A11\">SLC4A11<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/corneal-endothelial-cell-atrophy\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b5\u30f3\u30d5\u30a3\u30ea\u30dd\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.jrps.org\/aiyakai\/local\/back\/2008spring\/07.html\">Sanfilippo Syndrome, Type D [Mucopolysaccharidosis IIID]<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GNS&#038;keywords=GNS\">GNS<\/a><\/td>\n            <td><a href=\"\">12q14.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sanfilippo-syndrome-type-d-mucopolysaccharidosis-iiid\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8133\u30af\u30ec\u30a2\u30c1\u30f3\u6b20\u4e4f\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/22426\">Creatine Transporter Defect [Cerebral Creatine Deficiency Syndrome 1] X-Linked, SLC6A8<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC6A8&#038;keywords=SLC6A8\">SLC6A8<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/cerebral-creatine-deficiency-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u91cd\u75c7\u8907\u5408\u514d\u75ab\u4e0d\u5168\u75c7\uff08\u30a2\u30b5\u30d0\u30b9\u30ab\u578b\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/254\">Severe Combined Immunodeficiency, Type Athabaskan<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DCLRE1C&#038;keywords=DCLRE1C\">DCLRE1C<\/a><\/td>\n            <td><a href=\"\">10p13<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/severe-combined-immunodeficiency-type-athabaskan\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b7\u30b9\u30c1\u30ce\u30fc\u30b7\u30b9\uff08\u30b7\u30b9\u30c1\u30f3\u75c7\uff09<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/ctns.htm\">Cystinosis, CTNS<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CTNS&#038;keywords=CTNS\">CTNS<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/cystinosis\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>SLC35A3\u5909\u7570\u306b\u3088\u308b\u95a2\u7bc0\u62d8\u7e2e\u3001\u7cbe\u795e\u9045\u6ede\u3001\u304a\u3088\u3073\u767a\u4f5c<\/td>\n            <td><a href=\"https:\/\/www.msdmanuals.com\/ja-jp\/professional\/19-%E5%B0%8F%E5%85%90%E7%A7%91\/%E9%A0%AD%E8%93%8B%E9%A1%94%E9%9D%A2%E9%83%A8%E3%81%8A%E3%82%88%E3%81%B3%E7%AD%8B%E9%AA%A8%E6%A0%BC%E7%B3%BB%E3%81%AE%E5%85%88%E5%A4%A9%E7%95%B0%E5%B8%B8\/%E5%85%88%E5%A4%A9%E6%80%A7%E5%A4%9A%E7%99%BA%E6%80%A7%E9%96%A2%E7%AF%80%E6%8B%98%E7%B8%AE%E7%97%87?ruleredirectid=465\">Arthrogryposis Mental Retardation Seizures<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC35A3&#038;keywords=SLC35A3\">SLC35A3<\/a><\/td>\n            <td><a href=\"\">1p21.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/arthrogryposis-mental-retardation-seizures\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4522\">Duchenne Muscular Dystrophy, X-linked, DMD l<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DMD&#038;keywords=DMD\">DMD<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/duchenne-muscular-dystrophy\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>SLC35A3\u5909\u7570\u306b\u3088\u308b\u95a2\u7bc0\u62d8\u7e2e\u3001\u7cbe\u795e\u9045\u6ede\u3001\u304a\u3088\u3073\u767a\u4f5c<\/td>\n            <td><a href=\"https:\/\/www.msdmanuals.com\/ja-jp\/professional\/19-%E5%B0%8F%E5%85%90%E7%A7%91\/%E9%A0%AD%E8%93%8B%E9%A1%94%E9%9D%A2%E9%83%A8%E3%81%8A%E3%82%88%E3%81%B3%E7%AD%8B%E9%AA%A8%E6%A0%BC%E7%B3%BB%E3%81%AE%E5%85%88%E5%A4%A9%E7%95%B0%E5%B8%B8\/%E5%85%88%E5%A4%A9%E6%80%A7%E5%A4%9A%E7%99%BA%E6%80%A7%E9%96%A2%E7%AF%80%E6%8B%98%E7%B8%AE%E7%97%87?ruleredirectid=465\">Arthrogryposis Mental Retardation Seizures<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC35A3&#038;keywords=SLC35A3\">SLC35A3<\/a><\/td>\n            <td><a href=\"\">1p21.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/arthrogryposis-mental-retardation-seizures\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>Emery-Dreifuss \u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/11_20_046\/\">Emery-Dreifuss Muscular Dystrophy 1, X-Linked, EMD<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=EMD&#038;keywords=EMD\">EMD<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/muscular-dystrophy-of-emery-dreifuss-type\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/asparagine-synthetase-deficiency\/\">Asparagine Synthetase Deficiency<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ASNS&#038;keywords=ASNS\">ASNS<\/a><\/td>\n            <td><a href=\"\">7q21.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/asparagine-synthetase-deficiency\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5\u3001X\u9023\u9396\u6027<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Fabry Disease, X-Linked, GLA<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GLA&#038;keywords=GLA\">GLA<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fabry-disease\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30b9\u30d1\u30eb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30f3\u5c3f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Aspartylglycosaminuria<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AGA&#038;keywords=AGA\">AGA<\/a><\/td>\n            <td><a href=\"\">4q34.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/aspartylglycosaminuria\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5bb6\u65cf\u6027\u5730\u4e2d\u6d77\u71b1<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4448\">Familial Mediterranean Fever, MEFV<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MEFV&#038;keywords=MEFV\">MEFV<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/familial-mediterranean-fever\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u591a\u767a\u6027\u56a2\u80de\u814e<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/295\">Autosomal Recessive Polycystic Kidney Disease<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PKHD1&#038;keywords=PKHD1\">PKHD1<\/a><\/td>\n            <td><a href=\"\">6p12.3-p12.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-polycystic-kidney-disease\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ac\u30e9\u30af\u30c8\u30fc\u30b9-1-\u30ea\u30f3\u9178\u30a6\u30ea\u30b8\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4829\">Galactosemia, GALT u<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GALT&#038;keywords=GALT\">GALT<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/galactose-1-phosphate-uridyltransferase-deficiency\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d0\u30eb\u30c7\u30fc\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4(BBS1\u95a2\u9023)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/858\">Bardet-Biedl Syndrome (BBS1-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BBS1&#038;keywords=BBS1\">BBS1<\/a><\/td>\n            <td><a href=\"\">11q13.2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bardet-biedl-syndrome-bbs1-related\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u907a\u4f1d\u6027\u30d8\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b9<\/td>\n            <td><a href=\"https:\/\/minerva-clinic.or.jp\/genetictesting\/gene-list\/t\/tfr2\/\">Hemochromatosis, Type 3 (TFR2-related), TFR2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TFR2&#038;keywords=TFR2\">TFR2<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hereditary-haemochromatosis\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d5\u30a1\u30f3\u30b3\u30cb\u8ca7\u8840C\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4442\">Fanconi Anemia, Type C<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=FANCC&#038;keywords=FANCC\">FANCC<\/a><\/td>\n            <td><a href=\"\">9q22.32<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fanconi-anemia-type-c\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u773c\u76ae\u819a\u767d\u76ae\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4493\">Hermansky-Pudlak Syndrome (HPS3-related), HPS3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HPS3&#038;keywords=HPS3\">HPS3<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/eyelid-leucoderma\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d5\u30a1\u30f3\u30b3\u30cb\u8ca7\u8840G\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4441\">Fanconi Anemia, Type G<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=FANCG&#038;keywords=FANCG\">FANCG<\/a><\/td>\n            <td><a href=\"\">9p13.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fanconi-anemia-type-g\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u4f4e\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u75c7<\/td>\n            <td><a href=\"https:\/\/mgen.jihs.go.jp\/disease\/83#:~:text=%E4%BD%8E%E3%83%9B%E3%82%B9%E3%83%95%E3%82%A1%E3%82%BF%E3%83%BC%E3%82%BC%E7%97%85%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\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30db\u30b9\u30db\u30b0\u30ea\u30bb\u30ea\u30f3\u9178\u8131\u6c34\u7d20\u9175\u7d20\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/ur-dbms\/SyndromeDetail.php?recid=3970&#038;winid=1\">\u201c3-Phosphoglycerate Dehydrogenase Deficiency, PHGDH\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PHGDH&#038;keywords=PHGDH\">PHGDH<\/a><\/td>\n            <td><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/3-phosphoglycerate-dehydrogenase-deficiency-phgdh\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b4\u30fc\u30b7\u30a7\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Gaucher Disease<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GBA1\">GBA<\/a><\/td>\n            <td><a href=\"\">1q21<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/gaucher-disease\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b0\u30eb\u30bf\u30eb\u9178\u8840\u75c7\u2161A\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4820\">Glutaric Acidemia, Type 2A<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ETFA&#038;keywords=ETFA\">ETFA<\/a><\/td>\n            <td><a href=\"\">15q24.2-q24.3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glutaric-acidemia-type-2a\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u975e\u30b1\u30c8\u30fc\u30b7\u30b9\u578b\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7(\u30b0\u30ea\u30b7\u30f3\u8133\u75c7)<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5441\">Glycine Encephalopathy (GLDC-related)<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GLDC&#038;keywords=GLDC\">GLDC<\/a><\/td>\n            <td><a href=\"\">9p24.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycine-encephalopathy-gldc-related\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u767d\u8cea\u6d88\u5931\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5417\">Leukoencephalopathy with Vanishing White Matter<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=EIF2B5&#038;keywords=EIF2B5\">EIF2B5<\/a><\/td>\n            <td><a href=\"\">3q27.1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leukoencephalopathy-with-vanishing-white-matter\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n    <\/table>\n\n    <table class=\"disease_list\">\n        <tr>\n            <th>Disease Name (JP)<\/th>\n            <th>Disease Name (EN)<\/th>\n            <th>Genes Tested at Our Clinic<\/th>\n            <th>Detailed Information<\/th>\n        <\/tr>\n        <tr>\n            <td>\u81ea\u5df1\u514d\u75ab\u6027\u591a\u5185\u5206\u6ccc\u817a\u75c7\u5019\u7fa4 1\u578b<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/05_16_029\/\">Autoimmune Polyglandular Syndrome, Type 1, AIRE<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AIRE&#038;keywords=AIRE\">AIRE<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autoimmune-polyendocrine-gland-syndrome-type1\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30c4\u30a7\u30eb\u30a6\u30a7\u30ac\u30fc\u75c7\u5019\u7fa4\uff08PEX1\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4622\">Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related), PEX1 <\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX1&#038;keywords=PEX1\">PEX1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-syndrome-spectrum-pex1-related-pex1\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u81a0\u69d8\u6ef4\u72b6\u89d2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/6016\">Bartter Syndrome (BSND-related), BSND<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BSND&#038;keywords=BSND\">BSND<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/gelatinous-drop-like-corneal-dystrophy\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u95a2\u9023\u8907\u5408\u4e0b\u5782\u4f53\u30db\u30eb\u30e2\u30f3\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4018\">Pituitary Hormone Deficiency, Combined 3, LHX3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LHX3&#038;keywords=LHX3\">LHX3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pituitary-hormone-deficiency-combined-3-lhx3\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d2\u30eb\u30b7\u30e5\u30b9\u30d7\u30eb\u30f3\u30b0\u75c5<\/td>\n            <td><a href=\"https:\/\/www.jstage.jst.go.jp\/article\/jjsps\/14\/3\/14_KJ00003304927\/_article\/-char\/ja\/\">Cartilage-Hair Hypoplasia, RMRP<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RMRP&#038;keywords=RMRP\">RMRP<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hirschsprungs-disease\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u767a\u6027\u6bdb\u69d8\u4f53\u30b8\u30b9\u30ad\u30cd\u30b8\u30a2\u3001DNAI1\u95a2\u9023\u3001DNAI1<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/03_05_007\/\">Primary Ciliary Dyskinesia, DNAI1-related, DNAI1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DNAI1&#038;keywords=DNAI1\">DNAI1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-ciliary-dyskinesia\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d2\u30c8\u30a2\u30eb\u30ae\u30cb\u30ce\u30b9\u30af\u30b7\u30cd\u30fc\u30c8\u30b7\u30f3\u30c6\u30bf\u30fc\u30bc<\/td>\n            <td><a href=\"https:\/\/jglobal.jst.go.jp\/detail?JGLOBAL_ID=201702259224031034\">Citrullinemia, Type 1, ASS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ASS1&#038;keywords=ASS1\">ASS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/citrullinemia-type-1-ass1\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u767a\u6027\u9ad8\u30b7\u30e5\u30a6\u9178\u5c3f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_02_035\/\">Primary Hyperoxaluria, Type 2, GRHPR<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GRHPR&#038;keywords=GRHPR\">GRHPR<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-hyperoxaluria-type-2-grhpr\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u7570\u5e38\u75c7<\/td>\n            <td><a href=\"https:\/\/www.wch.opho.jp\/data\/media\/opho\/page\/hospital\/medical\/cdg_diagnosis\/cdg2.pdf\">Congenital Disorder of Glycosylation, Type 1B, MPI<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MPI&#038;keywords=MPI\">MPI<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-dysglycosylation\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d4\u30eb\u30d3\u30f3\u9178\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u8907\u5408\u4f53\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pyruvate-dehydrogenase-deficiency-pdhb-related\/\">\u201cPyruvate Dehydrogenase Deficiency (PDHB-related), PDHB\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PDHB&#038;keywords=PDHB\">PDHB<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pyruvate-dehydrogenase-deficiency-pdhb-related-2\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u7121\u75db\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/2351\">\u201cCongenital Insensitivity to Pain with Anhidrosis, NTRK1\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NTRK1&#038;keywords=NTRK1\">NTRK1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-painlessness\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>RLBP1\u95a2\u9023\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc (\u30dc\u30b9\u30cb\u30a2\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc)<\/td>\n            <td><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK564379\/\">Retinal Dystrophy (RLBP1-related) [Bothnia Retinal Dystrophy], RLBP<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RLBP&#038;keywords=RLBP\">RLBP<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinal-dystrophy-rlbr\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30eb\u30c9\u30b9\u30c6\u30ed\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/05_23_047\/\">Corticosterone Methyloxidase Deficiency, CYP11B2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CYP11B2&#038;keywords=CYP11B2\">CYP11B2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/aldosterone-synthase-deficiency\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7 26<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/196\">Retinitis Pigmentosa 26, CERKL<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CERKL&#038;keywords=CERKL\">CERKL<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-26\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>D-\u4e8c\u982d\u9175\u7d20(DBP)\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/minerva-clinic.or.jp\/genetictesting\/gene-list\/h\/hsd17b4\/\">D-Bifunctional Protein Deficiency, HSD17B4<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HSD17B4&#038;keywords=HSD17B4\">HSD17B4<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/d-biparasitic-enzyme-dbp-deficiency\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>1\u578b\u7a7f\u5b54\u6027\u8edf\u9aa8\u7570\u5f62\u6210\u75c7\uff08Rhizomelic Chondrodysplasia Punctata\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4571\">Rhizomelic Chondrodysplasia Punctata, Type 1, PEX7<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX7&#038;keywords=PEX7\">PEX7<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/rhizomelic-chondrodysplasia-punctata-type-1-pex7\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8868\u76ae\u6c34\u75b1\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5339\">\u201cDystrophic Epidermolysis Bullosa (COL7A1-related), COL7A1\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=COL7A1&#038;keywords=COL7A1\">COL7A1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/epidermal-herpetiformis\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b5\u30e9\u30fc\u75c5<\/td>\n            <td><a href=\"https:\/\/plaza.umin.ac.jp\/~pmd\/guideline10.html\">Salla Disease, SLC17A5<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC17A5&#038;keywords=SLC17A5\">SLC17A5<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/salla-disease\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u702c\u5ddd\u75c7\u5019\u7fa4\u3001\uff08TH\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/562\">Segawa Syndrome, (TH-related), TH<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TH&#038;keywords=TH\">TH<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/segawa-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5909\u7570\u95a2\u9023\u7db2\u819c\u5909\u6027\u75c7<\/td>\n            <td><a href=\"https:\/\/www.gii.co.jp\/report\/del1050813-nr2e3-mutation-associated-retinal-degeneration.html\">Enhanced S-Cone Syndrome, NR2E3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NR2E3&#038;keywords=NR2E3\">NR2E3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mutation-associated-retinal-degeneration\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u938c\u72b6\u8d64\u8840\u7403\u75c7<\/td>\n            <td><a href=\"https:\/\/genetics.qlife.jp\/diseases\/sickle-cell\">Sickle-Cell Disease, HBB l<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HBBl&#038;keywords=HBBl\">HBB l<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sickle-cell-disease-hbb\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7b2cIX\u56e0\u5b50\u6b20\u4e4f\u75c7\u3001X\u9023\u9396\u6027<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4649\">Factor IX Deficiency, X-Linked, F9<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=F9&#038;keywords=F9\">F9<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/factor-ix-deficiency-x-linked\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30c6\u30a4\u30b5\u30c3\u30af\u30b9\u75c5\u3001HEXA u<\/td>\n            <td><a href=\"https:\/\/jglobal.jst.go.jp\/detail?JGLOBAL_ID=200902180641734411\">Tay-Sachs Disease, HEXA u<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HEXA%E9%81%BA%E4%BC%9D%E5%AD%90&#038;keywords=HEXA%E9%81%BA%E4%BC%9D%E5%AD%90\">HEXA Gene<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/tay-sachs-disease-hexa-u\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u814e\u6027\u5c3f\u5d29\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5537\">Familial Nephrogenic Diabetes Insipidus (AQP2- related), AQP2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AQP2&#038;keywords=AQP2\">AQP2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-renal-urinary-stones\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4544#:~:text=%EF%BC%91%EF%BC%8E%E6%A6%82%E8%A6%81%E3%82%A6%E3%82%A3%E3%83%AB%E3%82%BD%E3%83%B3%E7%97%85%E3%81%AF,%E9%9A%9C%E5%AE%B3%E3%82%92%E6%9D%A5%E3%81%97%E3%81%86%E3%82%8B%E3%80%82\">Wilson Disease, ATP7B<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ATP7B&#038;keywords=ATP7B\">ATP7B<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/wilson-disease-atp7b\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7b4b\u578b\u7cd6\u539f\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4712\">Glycogen Storage Disease, Type 4, GBE1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GBE1&#038;keywords=GBE1\">GBE1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fascial-glycogenosis\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d8\u30eb\u30ea\u30c3\u30c4\u578b\u63a5\u5408\u578b\u8868\u76ae\u6c34\u75b1\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5339\">Junctional Epidermolysis Bullosa, Herlitz type, LAMC2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LAMC2&#038;keywords=LAMC2\">LAMC2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/junctional-epidermolysis-bullosa-herlitz-type-2\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>PTPS\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/med.m-review.co.jp\/article\/detail\/J0014_1901_0165-0167\">6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency, PTS<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PTS&#038;keywords=PTS\">PTS<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ptps\/?lang=en\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>1\u578b\u30e9\u30e1\u30e9\u9b5a\u9c57\u766c<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/139\">Lamellar Ichthyosis, Type 1, TGM1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TGM1&#038;keywords=TGM1\">TGM1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lamellar-ichthyosis-type-1-2\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\uff08CNGB3\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/?lang=en\">Achromatopsia (CNGB3-related), CNGB3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CNGB3&#038;keywords=CNGB3\">CNGB3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/achromatopsia-cnbg3-related\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u30d5\u30e9\u30f3\u30b9\u7cfb\u30ab\u30ca\u30c0\u4eba\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/428\">Leigh Syndrome, French-Canadian Type, LRPPRC<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LRPPRC&#038;keywords=LRPPRC\">LRPPRC<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leigh-syndrome-french-canadian-type-2\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_07_104\/#:~:text=%E5%89%AF%E8%85%8E%E7%99%BD%E8%B3%AA%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC(adrenoleukodystrophy%3B%20ALD,(AMN)%E3%80%81%E6%88%90%E4%BA%BA%E3%81%A7%E6%80%A7%E6%A0%BC\">Adrenoleukodystrophy, X-Linked, ABCD1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ABCD1&#038;keywords=ABCD1\">ABCD1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/adrenoleukodystrophy\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>2A\u578b \u56db\u80a2\u5e2f\u72b6\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4523\">Limb-Girdle Muscular Dystrophy, Type 2A, CAPN3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CAPN3&#038;keywords=CAPN3\">CAPN3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2a-capn3\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4348\">Alport Syndrome (COL4A3-related), COL4A3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=COL4A3&#038;keywords=COL4A3\">COL4A3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alport-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30012\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4523\">Limb-Girdle Muscular Dystrophy, Type 2D, SGCA<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SGCA&#038;keywords=SGCA\">SGCA<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2d-sgca\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d3\u30bf\u30df\u30f3E\u6b20\u4e4f\u75c7\u306b\u4f34\u3046\u904b\u52d5\u5931\u8abf\u75c7<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/ur-dbms\/SyndromeDetail.php?recid=3175&#038;winid=1\">Ataxia with Vitamin E Deficiency, TTPA<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TTPA&#038;keywords=TTPA\">TTPA<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ataxia-associated-with-vitamin-e-deficiency\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ea\u30dd\u30a4\u30c9\u526f\u814e\u904e\u5f62\u6210\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/1530\">Lipoid Adrenal Hyperplasia, STAR<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=STAR&#038;keywords=STAR\">STAR<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lipoid-adrenal-hyperplasia-star\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d0\u30c3\u30c6\u30f3\u75c5\uff08CLN3\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/medical-plus.bmrn.co.jp\/area\/ncl\/\">Batten Disease (CLN3-related), CLN3<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CLN3&#038;keywords=CLN3\">CLN3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/batten-disease-cln3\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u4e2d\u9396\u30a2\u30b7\u30eb-CoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u4e4f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_03_045\/\">\u201cMedium Chain Acyl-CoA Dehydrogenase Deficiency, ACADM u\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ACADM&#038;keywords=ACADM\">ACADM u<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/medium-chain-acyl-coa-dehydrogenase-deficiency-acadm\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d6\u30eb\u30fc\u30e0\uff08Bloom\uff09\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/10_02_014\/\">Bloom Syndrome, BLM u<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BLM&#038;keywords=BLM\">BLM<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bloom-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u30fb\u30ed\u30a4\u30b3\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08PSAP\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_088\/\">Metachromatic Leukodystrophy (PSAP-related) PSAP<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PSAP&#038;keywords=PSAP\">PSAP<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/metachromatic-leukodystrophy-psap-related\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ab\u30eb\u30cb\u30c1\u30f3\u30d1\u30eb\u30df\u30c8\u30a4\u30eb\u57fa\u8ee2\u79fb\u9175II\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_03_042\/\">Carnitine Palmitoyltransferase II Deficiency, CPT2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CPT2&#038;keywords=CPT2\">CPT2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/carnitine-palmitoyltransferase-2-deficiency\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u5c3f\u75c7\u30fb\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7 cblC\u578b<\/td>\n            <td><a href=\"https:\/\/myriad-com.translate.goog\/womens-health\/diseases\/methylmalonic-aciduria-and-homocystinuria-cblc-type\/?_x_tr_sl=en&#038;_x_tr_tl=ja&#038;_x_tr_hl=ja&#038;_x_tr_pto=sc\">Methylmalonic Aciduria and Homocystinuria, Type cblC, MMACHC<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MMACHC&#038;keywords=MMACHC\">MMACHC<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-aciduria-and-homocystinuria-type-cblc-2\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u8133\u8171\u9ec4\u8272\u816b\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4619\">Cerebrotendinous Xanthomatosis, CYP27A1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CYP27A1&#038;keywords=CYP27A1\">CYP27A1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pure-yellow-tumour-of-the-tendon\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5c0f\u773c\u7403\u75c7\uff0f\u7121\u773c\u7403\u75c7\uff08VSX2\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/747\">Microphthalmia\/Anophthalmia (VSX2-related), VSX2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=VSX2&#038;keywords=VSX2\">VSX2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/microphthalmia-anophthalmia\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u6162\u6027\u8089\u82bd\u816b\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/254\">Chronic Granulomatous Disease, X-Linked, CYBB<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CYBB&#038;keywords=CYBB\">CYBB<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/chronic-granulomatous-disease\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f531\u6b20\u640d\u75c7\uff08NDUFS6\u95a2\u9023\uff09,<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_04_054\/\">Mitochondrial Complex 1 Deficiency (NDUFS6-related), NDUFS6<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NDUFS6&#038;keywords=NDUFS6\">NDUFS6<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-1-deficiency-ndufs6-related-ndufs6\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30de\u30ed\u30f3\u9178\u5c3f\u75c7\u3068\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u5c3f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5449\">Combined Malonic and Methylmalonic Aciduria, <\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ACSF3&#038;keywords=ACSF3\">ACSF3<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/malonic-aciduria-and-methylmalonic-aciduria\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\uff08\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9 III\u578b\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Mucolipidosis III Gamma, GNPTG<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GNPTG&#038;keywords=GNPTG\">GNPTG<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucolipidosis-iii-gamma-gnptg\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e0\u30b3\u591a\u7cd6\u75c7IIIB\u578b\uff3bSanfilippo B\uff3d\u3001<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4063\">\u201cMucopolysaccharidosis, Type IIIB [Sanfilippo B], NAGLU\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NAGLU&#038;keywords=NAGLU\">NAGLU<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-type-iiib-sanfilippo-b-naglu\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>PROP1\u95a2\u9023\u8907\u5408\u4e0b\u5782\u4f53\u30db\u30eb\u30e2\u30f3\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/PROP1.htm\">Combined Pituitary Hormone Deficiency 2, PROP1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PROP1&#038;keywords=PROP1\">PROP1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/prop1-related-combined-pituitary-hormone-deficiency\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\uff08\u30e0\u30b3\u591a\u7cd6\u75c7IX\u578b\u3001\u30d2\u30a2\u30eb\u30ed\u30cb\u30c0\u30fc\u30bc\u6b20\u640d\u75c7\uff09<\/td>\n            <td><a href=\"https:\/\/www-omim-org.translate.goog\/entry\/601492?_x_tr_sl=en&#038;_x_tr_tl=ja&#038;_x_tr_hl=ja&#038;_x_tr_pto=sc\">Mucopolysaccharidosis, Type IX, HYAL1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HYAL1&#038;keywords=HYAL1\">HYAL1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-type-ix-hyal1\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027N-\u7d50\u5408\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u7d4c\u8def\u7570\u5e38\u75c7<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/n_cdg.htm\">Congenital Disorder of Glycosylation Type 1C, ALG6<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ALG6&#038;keywords=ALG6\">ALG6<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-n-linked-glycosylation-pathway-disorders\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/3963\">\u201cCongenital Myasthenic Syndrome (CHRNE-related), CHRNE\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CHRNE&#038;keywords=CHRNE\">CHRNE<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-amyotrophic-syndrome-2\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_101\/\">Neuronal Ceroid Lipofuscinosis (CLN6-related), CLN6<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CLN6&#038;keywords=CLN6\">CLN6<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-cln6-related-cln6\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/3963\">\u201cCongenital Myasthenic Syndrome (CHRNE-related), CHRNE\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CHRNE&#038;keywords=CHRNE\">CHRNE<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-amyotrophic-syndrome-2\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9178\u6027\u30b9\u30d5\u30a3\u30f3\u30b4\u30df\u30a8\u30ea\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/asmd.htm\">Niemann-Pick Disease, Types A\/B, SMPD1 u<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SMPD1&#038;keywords=SMPD1\">SMPD1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/niemann-pick-disease-types-a-b-smpd1\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5148\u5929\u6027\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/2310\">Congenital Neutropenia (VPS45-related), VPS45<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=VPS45&#038;keywords=VPS45\">VPS45<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-hypospadias\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/335\">Pontocerebellar Hypoplasia, RARS2-related, RARS2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RARS2&#038;keywords=RARS2\">RARS2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-rars2-related-rars2\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>CRB1\u95a2\u9023\u306e\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4798\">CRB1-related Retinal Dystrophies, CRB1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CRB1&#038;keywords=CRB1\">CRB1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/crb1-related-retinal-dystrophy\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/03_05_007\/\">Primary Ciliary Dyskinesia, DNAI2-related, DNAI2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DNAI2&#038;keywords=DNAI2\">DNAI2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-ciliary-dyskinesia-dnai2-related-dnai2\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u96e3\u8074\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u602777<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/?lang=en\">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\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d4\u30eb\u30d3\u30f3\u9178\u8131\u6c34\u7d20\u9175\u7d20\u8907\u5408\u4f53\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_04_050\/\">Pyruvate Dehydrogenase Deficiency, X-Linked, PDHA1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PDHA1&#038;keywords=PDHA1\">PDHA1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pyruvate-dehydrogenase-deficiency-x-linked-pdha1\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a8\u30fc\u30e9\u30b9\u30fb\u30c0\u30f3\u30ed\u30b9\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_13_135\/\">Ehlers-Danlos Syndrome, Type VIIC, ADAMTS<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ADAMTS&#038;keywords=ADAMTS\">ADAMTS<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ehlers-danlos-syndrome\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7<\/td>\n            <td><a href=\"https:\/\/nanbyodata.jp\/disease\/NANDO:1200431\">Retinitis Pigmentosa 28, FAM161A<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=FAM161A&#038;keywords=FAM161A\">FAM161A<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-28-fam161a\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a8\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8133\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4860\">Ethylmalonic Encephalopathy, ETHE1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ETHE1&#038;keywords=ETHE1\">ETHE1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ethylmalonic-acid-encephalopathy\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u80a2\u6839\u578b\u70b9\u72b6\u8edf\u9aa8\u7570\u5f62\u6210\u75c7III\u578b (RCDP3)<\/td>\n            <td><a href=\"https:\/\/minerva-clinic.or.jp\/genetictesting\/gene-list\/a\/agps\/\">Rhizomelic Chondrodysplasia Punctata, Type 3, AGPS<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AGPS&#038;keywords=AGPS\">AGPS<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/rhizomelic-chondrodysplasia-punctata-type-3-agps\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7b2cV\u56e0\u5b50\u6b20\u4e4f\u75c7<\/td>\n            <td><a href=\"https:\/\/jsth.medical-words.jp\/?post_type=words&#038;p=281\">Factor V Leiden Thrombophilia, F5<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=F5&#038;keywords=F5\">F5<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/factor-v-leiden-thrombophilia-f5\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b5\u30f3\u30c9\u30db\u30d5\u75c5<\/td>\n            <td><a href=\"https:\/\/www.msdmanuals.com\/ja-jp\/%E3%83%9B%E3%83%BC%E3%83%A0\/23-%E5%B0%8F%E5%85%90%E3%81%AE%E5%81%A5%E5%BA%B7%E4%B8%8A%E3%81%AE%E5%95%8F%E9%A1%8C\/%E9%81%BA%E4%BC%9D%E6%80%A7%E4%BB%A3%E8%AC%9D%E7%96%BE%E6%82%A3\/%E3%83%86%E3%82%A4-%E3%82%B5%E3%83%83%E3%82%AF%E3%82%B9%E7%97%85%E3%81%8A%E3%82%88%E3%81%B3%E3%82%B5%E3%83%B3%E3%83%89%E3%83%9B%E3%83%95%E7%97%85\">Sandhoff Disease, HEXB<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HEXB&#038;keywords=HEXB\">HEXB<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sandhoff-disease-hexb\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u5bb6\u65cf\u6027\u9ad8\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/65\">Familial Hypercholesterolemia (LDLR-related), LDLR<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LDLR&#038;keywords=LDLR\">LDLR<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/familial-hypercholesterolemia-ldlr-related-ldlr\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9ad8\u30c1\u30ed\u30b7\u30f3\u8840\u75c7\uff11\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4691\">Tyrosinemia, Type 1, FAH<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=FAH&#038;keywords=FAH\">FAH<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/tyrosinemia-type-1-fah\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ac\u30e9\u30af\u30c8\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4829\">\u201cGalactokinase Deficiency [Galactosemia, Type II], GALK1\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GALK1&#038;keywords=GALK1\">GALK1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/galactokinase-deficiency-galactosemia-type-ii-galk1\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4625\">Usher Syndrome, Type 2A, USH2A<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=USH2A&#038;keywords=USH2A\">USH2A<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/usher-syndrome-type-2a-ush2a\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b0\u30eb\u30bf\u30eb\u9178\u8840\u75c7\uff11\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4831\">Glutaric Acidemia, Type 1, GCDH<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GCDH&#038;keywords=GCDH\">GCDH<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glutaric-acidemia-type-1-gcdh\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7db2\u819c\u5206\u96e2\u75c7<\/td>\n            <td><a href=\"https:\/\/minerva-clinic.or.jp\/genetictesting\/gene-list\/r\/rs1\/\">Juvenile Retinoschisis, X-Linked, RS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RS1&#038;keywords=RS1\">RS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/juvenile-retinoschisis-x-linked-rs1\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u975e\u30b1\u30c8\u30fc\u30b7\u30b9\u578b\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5440\">Glycine Encephalopathy (AMT-related), AMT<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AMT&#038;keywords=AMT\">AMT<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycine-encephalopathy-amt-related-amt\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4524\">Limb-Girdle Muscular Dystrophy, Type 2B, DYSF<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DYSF&#038;keywords=DYSF\">DYSF<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2b-dysf\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7cd6\u539f\u75c5II\u578b\uff08\u30dd\u30f3\u307a\u75c5\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4712\">\u201cGlycogen Storage Disease, Type 2 [Pompe Disease], GAA\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GAA&#038;keywords=GAA\">GAA<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-type-2-pompe-disease-gaa\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u76ae\u8cea\u4e0b\u56a2\u80de\u3092\u4f34\u3046\u5de8\u982d\u6027\u767d\u8cea\u8133\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/search\/group\">Megalencephalic Leukoencephalopathy with Subcortical Cysts, MLC1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MLC1&#038;keywords=MLC1\">MLC1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/megalencephalic-leukoencephalopathy-with-subcortical-cysts-mlc1\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7cd6\u539f\u75c5V\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4711\">\u201cGlycogen Storage Disease, Type 5 [McArdle Disease], PYGM\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PYGM&#038;keywords=PYGM\">PYGM<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-type-5-mcardle-disease-pygm\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f531\u6b20\u640d\u75c7\uff08ACAD9\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/335\">Mitochondrial Complex 1 Deficiency (ACAD9-related), ACAD9<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ACAD9&#038;keywords=ACAD9\">ACAD9<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-1-deficiency-acad9-related-acad9\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u82e5\u5e74\u6027\u30d8\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b9<\/td>\n            <td><a href=\"https:\/\/www.msdmanuals.com\/ja-jp\/%E3%83%9B%E3%83%BC%E3%83%A0\/13-%E8%A1%80%E6%B6%B2%E3%81%AE%E7%97%85%E6%B0%97\/%E9%89%84%E9%81%8E%E5%89%B0%E7%97%87\/%E3%83%98%E3%83%A2%E3%82%AF%E3%83%AD%E3%83%9E%E3%83%88%E3%83%BC%E3%82%B7%E3%82%B9\">Hemochromatosis, Type 2A, HFE2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HJV\">HFE2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hemochromatosis-type-2a-hfe2\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u30df\u30aa\u30d1\u30c1\u30fc\u3068\u9244\u82bd\u7403\u6027\u8ca7\u8840\uff08MLASA1\uff09\u3001PUS1<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/335\">Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1), PUS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PUS1&#038;keywords=PUS1\">PUS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-myopathy-and-sideroblastic-anemia-mlasa1-pus1\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d8\u30eb\u30de\u30f3\u30b9\u30ad\u30fc\u30fb\u30d1\u30c9\u30e9\u30c3\u30af\u75c7\u5019\u7fa41<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/hps.htm\">Hermansky-Pudlak Syndrome (HPS1-related), HPS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HPS1&#038;keywords=HPS1\">HPS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hermansky-pudlak-syndrome-hps1-related-hps1\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9\uff08IV\u578b\uff09<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/ml4.htm\">Mucolipidosis, Type IV, MCOLN1 u<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MCOLN1&#038;keywords=MCOLN1\">MCOLN1 u<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucolipidosis-type-iv-mcoln1-u\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_01_008\/#:~:text=%E3%83%9B%E3%83%A2%E3%82%B7%E3%82%B9%E3%83%81%E3%83%B3%E5%B0%BF%E7%97%85%E3%81%AF%E3%83%A1%E3%83%81%E3%82%AA%E3%83%8B%E3%83%B3,%E7%96%BE%E6%82%A3%E3%81%A8%E3%81%AA%E3%81%A3%E3%81%A6%E3%81%84%E3%82%8B%E3%80%82\">Homocystinuria (CBS-related), CBS<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CBS&#038;keywords=CBS\">CBS<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/homocystinuria-cbs-related-cbs\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>N-\u30a2\u30bb\u30c1\u30eb\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u30b7\u30f3\u30bf\u30fc\u30bc\u6b20\u4e4f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_01_011\/\">N-acetylglutamate Synthase Deficiency, NAGS<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NAGS&#038;keywords=NAGS\">NAGS<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/n-acetylglutamate-synthase-deficiency-nags\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7121\u6c57\u6027\u5916\u80da\u8449\u5f62\u6210\u4e0d\u5168\u75c7<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/html\/detail\/14_08_013.html\">Hypohidrotic Ectodermal Dysplasia, X-Linked, EDA<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=EDA&#038;keywords=EDA\">EDA<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hypohidrotic-ectodermal-dysplasia-x-linked-eda\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5 C1\/D\u578b<\/td>\n            <td><a href=\"https:\/\/www.msdmanuals.com\/ja-jp\/%E3%83%9B%E3%83%BC%E3%83%A0\/23-%E5%B0%8F%E5%85%90%E3%81%AE%E5%81%A5%E5%BA%B7%E4%B8%8A%E3%81%AE%E5%95%8F%E9%A1%8C\/%E9%81%BA%E4%BC%9D%E6%80%A7%E4%BB%A3%E8%AC%9D%E7%96%BE%E6%82%A3\/%E3%83%8B%E3%83%BC%E3%83%9E%E3%83%B3-%E3%83%94%E3%83%83%E3%82%AF%E7%97%85\">Niemann-Pick Disease, Type C1\/D, NPC1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=%20NPC1&#038;keywords=%20NPC1\">NPC1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/niemann-pick-disease-type-c1-d-npc1\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30af\u30e9\u30c3\u30d9\u75c5<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_092\/\">Krabbe Disease, GALC<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GALC&#038;keywords=GALC\">GALC<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/krabbe-disease-galc\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u975e\u30b7\u30f3\u30c9\u30ed\u30fc\u30e0\u6027\u96e3\u8074\uff08GJB2\u95a2\u9023\u3001GJB6\u95a2\u9023\uff09<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/?lang=en\">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, GJB6<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/deafness-and-hereditary-hearing-loss-overview\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4660\">Leber Congenital Amaurosis, Type CEP290, CEP290<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CEP290&#038;keywords=CEP290\">CEP290<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leber-congenital-amaurosis-type-cep290\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30aa\u30eb\u30cb\u30c1\u30f3\u30a2\u30df\u30ce\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u6b20\u4e4f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/841\">Ornithine Aminotransferase Deficiency, OAT<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=OAT&#038;keywords=OAT\">OAT<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ornithine-aminotransferase-deficiency-oat\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4522\">Limb-Girdle Muscular Dystrophy, Type 2C, SGCG<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SGCG&#038;keywords=SGCG\">SGCG<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2c-sgcg\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30d5\u30a7\u30cb\u30eb\u30b1\u30c8\u30f3\u5c3f\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4747\">Phenylketonurea, PAH u<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PAH&#038;keywords=PAH\">PAH u<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/phenylketonurea-pah\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b8\u30d2\u30c9\u30ed\u30ea\u30dd\u30a2\u30df\u30c9\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/dihydrolipoamide-dehydrogenase-deficiency\/\">Lipoamide Dehydrogenase Deficiency [Maple Syrup Urine Disease, Type 3], DLD<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DLD&#038;keywords=DLD\">DLD<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lipoamide-dehydrogenase-deficiency-maple-syrup-srine-disease-type-3-dld\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u539f\u767a\u6027\u9ad8\u30b7\u30e5\u30a6\u9178\u5c3f\u75c7\u2160\u578b<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_02_035\/\">Primary Hyperoxaluria, Type 1, AGXT<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=AGXT&#038;keywords=AGXT\">AGXT<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-hyperoxaluria-type-1-agxt\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u9577\u93963-\u30d2\u30c9\u30ed\u30ad\u30b7\u30a2\u30b7\u30ebCoA\u8131\u6c34\u7d20\u9175\u7d20\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency\/#:~:text=%E6%A6%82%E8%A6%81,%E8%84%82%E8%82%AA%E9%85%B8%E9%85%B8%E5%8C%96%E7%95%B0%E5%B8%B8%E7%97%87)%E3%81%A7%E3%81%99%E3%80%82\">Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, HADHA<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HADHA&#038;keywords=HADHA\">HADHA<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency-hadha\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u814e\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u96e3\u8074\uff08ATP6V1B1-\u95a2\u9023\uff09\u3001ATP6V1B<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/3277\">Renal Tubular Acidosis and Deafness (ATP6V1B1- related), ATP6V1B<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ATP6V1B&#038;keywords=ATP6V1B\">ATP6V1B<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/renal-tubular-acidosis-and-deafness-atp6v1b1-related-atp6v1b1\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u95a2\u9023\u75be\u60a3<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4552\">Meckel-Gruber Syndrome, Type 1, MKS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MKS1&#038;keywords=MKS1\">MKS1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/meckel-gruber-syndrome-type-1-mks1\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>X\u9023\u9396\u6027\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/196\">Retinitis Pigmentosa, X-linked, RPGR<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=RPGR&#038;keywords=RPGR\">RPGR<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-x-linked-rpgr\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_088\/#:~:text=%E7%95%B0%E6%9F%93%E6%80%A7%E7%99%BD%E8%B3%AA%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC%E3%81%AF%E3%80%81%E3%82%A2%E3%83%AA%E3%83%AB%E3%82%B9%E3%83%AB%E3%83%95%E3%82%A1%E3%82%BF%E3%83%BC%E3%82%BCA%E3%81%AE,%E5%9E%8B%E3%81%AB%E5%88%86%E9%A1%9E%E3%81%95%E3%82%8C%E3%82%8B%E3%80%82\">Metachromatic Leukodystrophy (ARSA-related), ARSA<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ARSA&#038;keywords=ARSA\">ARSA<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/metachromatic-leukodystrophy-arsa-related-arsa\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.jsum.or.jp\/\">Roberts Syndrome, ESCO2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ESCO2&#038;keywords=ESCO2\">ESCO2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/roberts-syndrome-esco2\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4859\">Methylmalonic Aciduria (MMAB-related), MMAB<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MMAB&#038;keywords=MMAB\">MMAB<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-aciduria-mmab-related-mmab\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b7\u30e0\u30b1\u514d\u75ab\u6027\u9aa8\u5f62\u6210\u4e0d\u5168<\/td>\n            <td><a href=\"https:\/\/grj.umin.jp\/grj\/old\/schimke.htm\">Schimke Immunoosseous Dysplasia, SMARCAL1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SMARCAL1&#038;keywords=SMARCAL1\">SMARCAL1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/schimke-immunoosseous-dysplasia-smarcal1\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7MUT0\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4859\">Methylmalonic Aciduria, Type mut(0), MMUT<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MMUT&#038;keywords=MMUT\">MMUT<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-aciduria-type-mut0-mmut\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\u3001DHCR7 u<\/td>\n            <td><a href=\"https:\/\/www.shouman.jp\/disease\/html\/detail\/13_01_028.html\">Smith-Lemli-Opitz Syndrome, DHCR7 u<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=DHCR7&#038;keywords=DHCR7\">DHCR7 u<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/smith-lemli-opitz-syndrome-dhcr7\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53 I \u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/medlineplus-gov.translate.goog\/genetics\/condition\/mitochondrial-complex-i-deficiency\/?_x_tr_sl=en&#038;_x_tr_tl=ja&#038;_x_tr_hl=ja&#038;_x_tr_pto=sc\">Mitochondrial Complex 1 Deficiency (NDUFAF5- related), NDUFAF5<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NDUFAF5&#038;keywords=NDUFAF5\">NDUFAF5<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-complex-1-deficiency-ndufaf5-related-ndufaf5\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>Stuve-Wiedemann\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/3958\">Stuve-Wiedemann Syndrome, LIFR<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HSPG2&#038;keywords=HSPG2\">HSPG2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/stuve-wiedemann-syndrome-lifr\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9\u2162\u578b<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\">Mucolipidosis II\/III, GNPTAB<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=GNPTAB&#038;keywords=GNPTAB\">GNPTAB<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucolipidosis-ii-iii-gnptab\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa4\uff081C\u578b\uff09USH1C<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/ur-dbms\/SyndromeDetail.php?recid=3158&#038;winid=1\">Usher Syndrome, Type 1C, USH1C<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=USH1C&#038;keywords=USH1C\">USH1C<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/usher-syndrome-type-1c-ush1c\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u795e\u7d4c\u80c3\u8178\u8133\u75c7\u75be\u60a3<\/td>\n            <td><a href=\"https:\/\/medlineplus-gov.translate.goog\/genetics\/condition\/mitochondrial-neurogastrointestinal-encephalopathy-disease\/?_x_tr_sl=en&#038;_x_tr_tl=ja&#038;_x_tr_hl=ja&#038;_x_tr_pto=sc\">\u201cMyoneurogastrointestinal Encephalopathy (MNGIE), TYMP\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TYMP&#038;keywords=TYMP\">TYMP<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/myoneurogastrointestinal-encephalopathy-mngie-tymp\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30bc\u30eb\u30a6\u30a3\u30ac\u30fc\u30fb\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u3001\uff08PEX6\u95a2\u9023\uff09\u3001PEX6<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/UR-DBMS\/SyndromeDetail.php?recid=8221&#038;winid=1\">Zellweger Spectrum Disorders, (PEX6-related), PEX6<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX6&#038;keywords=PEX6\">PEX6<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-spectrum-disorders-pex6-related-pex6\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30ca\u30d0\u30db\u795e\u7d4c\u809d\u75c7\uff3bMPV17\u95a2\u9023\u809d\u7d30\u80de\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u6b20\u5931\u75c7\u5019\u7fa4\uff3d<\/td>\n            <td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome\/\">Navajo Neurohepatopathy [MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome], MPV17<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=MPV17&#038;keywords=MPV17\">MPV17<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/navajo-neurohepatopathy-mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome-mpv17\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30bc\u30eb\u30a6\u30a3\u30ac\u30fc\u30fb\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08PEX10\u95a2\u9023\uff09\u3001PEX10<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/UR-DBMS\/SyndromeDetail.php?recid=8221&#038;winid=1\">Zellweger Spectrum Disorders (PEX10-related), PEX10<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PEX10&#038;keywords=PEX10\">PEX10<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-spectrum-disorders-pex10-related-pex10\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>CLN5 \u75be\u60a3<\/td>\n            <td><a href=\"https:\/\/medlineplus-gov.translate.goog\/genetics\/condition\/cln5-disease\/?_x_tr_sl=en&#038;_x_tr_tl=ja&#038;_x_tr_hl=ja&#038;_x_tr_pto=sc\">Neuronal Ceroid Lipofuscinosis (CLN5-related), CLN5<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CLN5&#038;keywords=CLN5\">CLN5<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-cln5-related-cln5\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7<\/td>\n            <td><a href=\"https:\/\/www.jstage.jst.go.jp\/article\/ojjscn\/53\/4\/53_251\/_pdf\/-char\/ja\">Neuronal Ceroid Lipofuscinosis (PPT1-related), PPT1<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=PPT1&#038;keywords=PPT1\">PPT1<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-ppt1-related-ppt1\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5\u3001C2\u578b\u3001NPC2\u578b<\/td>\n            <td><a href=\"https:\/\/syndromefinder.ncchd.go.jp\/UR-DBMS\/SyndromeDetail.php?recid=4621&#038;winid=1\">Niemann-Pick Disease, Type C2, NPC2<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=NPC2&#038;keywords=NPC2\">NPC2<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/niemann-pick-disease-type-c2-npc2\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30aa\u30c9\u30f3\u30c8\u30fb\u30aa\u30cb\u30fc\u30b3\u30fb\u76ae\u819a\u7570\u5f62\u6210\u75c7\u30fb\u201d\u30aa\u30c9\u30f3\u30c8\u30fb\u30aa\u30cb\u30fc\u30b3\u30fb\u76ae\u819a\u7570\u5f62\u6210\u75c7\u3001\u30b7\u30e7\u30d7\u30d5\u30fb\u30b7\u30e5\u30eb\u30c4\u30fb\u30d1\u30b5\u30fc\u30b8\u75c7\u5019\u7fa4<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4456\">\u201cOdonto-Onycho-Dermal Dysplasia \/ Schopf-Schulz- Passarge Syndrome, WNT10A\u201d<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=WNT10A&#038;keywords=WNT10A\">WNT10A<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/odonto-onycho-dermal-dysplasia-schopf-schulz-passarge-syndrome-wnt10a\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n        <tr>\n            <td>\u30aa\u30eb\u30cb\u30c1\u30f3\u30c8\u30e9\u30f3\u30b9\u30ab\u30eb\u30d0\u30df\u30e9\u30fc\u30bc\u6b20\u640d\u75c7<\/td>\n            <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/841\">Ornithine Transcarbamylase Deficiency, OTC<\/a><\/td>\n            <td><a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=OTC&#038;keywords=OTC\">OTC<\/a><\/td>\n            <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ornithine-transcarbamylase-deficiency-otc\/\">Click here for details on this condition<\/a><\/td>\n        <\/tr>\n\n    <\/table>\n<\/div>\n\n<style>\n.disease_list {\n    font-family: arial, sans-serif;\n    border-collapse: collapse;\n    width: 100%;\n    margin-bottom: 40px;\n}\n.disease_list td, .disease_list th {\n    border: 1px solid #dddddd;\n    text-align: left;\n    padding: 8px;\n    line-height: 1.2;\n}\n.disease_list tr:nth-child(even) {\n    background-color: rgba(242, 168, 195, 0.5);\n}\n\n\n@media screen and (max-width: 600px){\n    .disease_list td, .disease_list th {\n        width: 20%;\n    }\n}\n<\/style>\n\n\n\n<div class=\"section-separator\">\n<h2 class=\"wp-block-heading\">Understanding Recessive Genetic Disorders at Hiro Clinic<\/h2>\n<p>At Hiro Clinic, we offer prenatal testing to screen genes associated with severe recessive genetic disorders. This test extracts and analyzes genetic material from mucosal cells collected from the inner cheek of both the mother and father. Based on their combined genetic information, it determines whether the fetus is at risk of inheriting a severe genetic condition. In our clinic\u2019s findings to date, approximately 70% of individuals carry at least one recessive gene mutation. Even if you are a carrier, you will almost never experience any symptoms yourself.<\/p>\n<p>For instance, even with a rare recessive genetic disorder that affects only 1 in 40,000 individuals, 1 in 100 people is a carrier (someone who holds a gene mutation without developing symptoms). This test is valuable for identifying whether both the mother and father are carriers and predicting the risk of recessive genetic conditions.<\/p>\n\n<p>At Hiro Clinic, we believe that identifying carrier genes and evaluating potential links to recessive genetic disorders based on parental gene combinations makes this a highly useful screening test.<\/p>\n<p>A key feature of this test is that <span class=\"underline\" style=\"text-decoration: 5px underline #ffff66; text-underline-offset: -1px; font-weight: 700; color: #e54c84;\">it detects all gene combinations previously associated with genetic anomalies to determine whether a specific genetic variant is genuinely pathogenic.<\/span><\/p>\n<p>Genes vary from individual to individual. This variability is common even among critical genes, and this natural diversity is what makes each person unique. However, certain genetic variants can carry pathogenic risks.<\/p>\n<p>Information on gene combinations is shared in global databases. By searching these databases, we can assess whether a specific genetic change carries pathogenic significance.<\/p>\n<p>When both the mother and father carry pathogenic variants at the exact same location, there is a high risk of the child developing the condition. However, simply looking at genetic variants alone is not enough; <span class=\"underline\" style=\"text-decoration: 5px underline #ffff66; text-underline-offset: -1px; color: #e54c84;\">it is essential to accurately analyze and classify (annotate) whether a genetic change is truly a disease-causing abnormality.<\/span><\/p>\n<\/div>\n\n\n\n<p>Below is a summary recommendation issued in the United States by the American College of Obstetricians and Gynecologists (ACOG). It emphasizes that, at a minimum, all pregnant women should be provided with information about the availability of such testing.<\/p>\n\n\n\n<p>ACOG Committee Opinion (No. 691) Summary \/ Excerpt<\/p>\n\n\n\n<p>\u30fbAll pregnant women should be provided with information about genetic carrier screening. Patients also have the option to decline testing after receiving counseling.<br>\u30fbCarrier screening and counseling are ideally performed prior to pregnancy (preconception).<br>\u30fbIf an individual is identified as a carrier, their partner should also be offered testing following counseling. When time is limited for making prenatal diagnostic decisions, simultaneous testing for both the patient and partner is recommended.<br>\u30fbIf both partners are identified as carriers, counseling should be provided. Prenatal diagnosis or assisted reproductive technologies should be considered to reduce the risk of having an affected child.<br>\u30fbIf an individual is found to be a carrier, their relatives are also at risk for the same mutation. Therefore, the patient should be encouraged to inform them of this risk and the availability of carrier screening. Obstetricians, gynecologists, and healthcare providers must not disclose this information without the patient&#8217;s permission.<br>\u30fbIt is important to obtain the patient&#8217;s family history and, if possible, the partner&#8217;s genetic background and risks. The family history should include the family&#8217;s ethnic background and any consanguinity (blood relation). If a family history is present, screening for specific conditions should be offered, and the patient may benefit from counseling.<br>\u30fbScreening for specific conditions should be performed only once in a person&#8217;s lifetime, and the results should be saved in the patient&#8217;s medical records. However, because advances in genetic testing are rapid, new screening panels may include additional mutations. Decisions regarding re-testing should be made under the guidance of a genetics professional, who can best evaluate the benefits of re-testing to identify new mutations.<br>\u30fbPrenatal carrier screening does not replace newborn screening, nor does newborn screening replace the potential value of prenatal carrier screening.<br>\u30fbIf a patient requests carrier screening for specific conditions that are available and reasonable compared to other screening options, the requested screening should be offered to the patient (regardless of ethnicity or family history) after they have been informed of the risks, benefits, and limitations of the test.<br>\u30fbThe cost of individual condition-based carrier screening can sometimes be higher than commercially available expanded carrier screening (ECS). When selecting a carrier screening approach, the costs to both the patient and the healthcare system should be taken into consideration.<\/p>\n\n\n\n<div class=\"about-231\">\n  <h2>About Testing for Recessive Genetic Disorder Genes<\/h2>\n  <div class=\"container\">\n    <div class=\"accordion-wrap\">\n      <div class=\"accordion-button\">\n        <p>Testing Method \/ Limitations of Testing<\/p>\n      <\/div>\n      <div class=\"accordion-text\">\n        <p>\n          Genomic deoxyribonucleic acid (gDNA) is extracted using a standardized method and mechanically fragmented prior to DNA library preparation.<br>\n          Target genomic regions are enriched using solution-based hybridization methods, and sequencing is performed via Next-Generation Sequencing (NGS).<br>\n          The generated sequence reads are aligned to a reference genome, and variants are identified using a proprietary bioinformatics pipeline.<br>\n          For recessive inheritance, single nucleotide variants (SNVs), small insertions and deletions (indels \u2264 30 bp), and copy number variations (CNVs) can be detected.<br>\n          Variants are classified according to the criteria of the American College of Medical Genetics and Genomics (ACMG) tiers 3\u20135.<br>\n          Variant classification and interpretation are performed using the Varsome Clinical platform, based on the information available at the time of testing.<br>\n          <span class=\"bold\">Only pathogenic and likely pathogenic variants are reported. Variants detected that are classified as variants of uncertain significance (VUS), benign, or likely benign will not be reported.<\/span><br>\n          Genetic counseling is recommended regarding clinical interpretation and results.<br>\n          <br>\n          A: For Autosomal Results:<br>\n          A-1: &#8220;No clinically significant variants detected&#8221;<br>\n          While this does not completely guarantee that the subject is not a carrier of a hereditary condition, it indicates the absence of identified gene mutations, suggesting a low likelihood of being a carrier.<br>\n          A-2: &#8220;Clinically significant variant(s) detected&#8221;<br>\n          Indicates that a genetic change was identified, showing that the subject is a carrier for that condition. In such cases, the subject may be a carrier for two or more conditions.<br>\n          Carriers usually do not exhibit symptoms of the disease. However, if both copies of the chromosome show mutations, the possibility that the subject is currently affected or may develop symptoms in the future cannot be ruled out.<br>\n          <br>\n          B: For X-Linked Inherited Conditions:<br>\n          B-1: &#8220;No clinically significant variants detected&#8221;<br>\n          Indicates that no hereditary variants were found. If the subject is male, this suggests he is unaffected; if female, it indicates a low likelihood of being a carrier, though it cannot be completely ruled out.<br>\n          B-2: &#8220;Clinically significant variant(s) detected&#8221;:<br>\n          Indicates that a genetic alteration was identified. Female subjects may be carriers.<br>\n          If the subject is male, this indicates that he is currently affected or has the potential to develop the disease in the future. However, because conditions in this panel vary in severity, clinical symptoms may not manifest.<br>\n          The purpose of the assay is to detect all variants associated with the covered genes by targeting all coding exons, MANE and\/or canonical transcripts, and 10 bp of flanking intronic sequences.<br>\n          Variants outside the target regions are not intended to be detected by this assay.<br>\n          Unless explicitly stated otherwise, sequence changes (SNVs and indels) in promoter regions and other non-coding regions are not detected by this assay.<br>\n          Specific sequence changes (SNVs and indels) in non-coding regions deemed clinically significant for the detected genes are included in the analysis.<br>\n          If two variants are identified in a single gene, this test cannot distinguish whether they reside on the same chromosome (cis) or on opposite chromosomes (trans).<br>\n          Genetic alterations such as inversions, rearrangements, polyploidy, and epigenetic modifications are not targeted by this test.<br>\n          Specific sequence alterations (SNVs and indels) in target regions with repetitive sequences, highly homologous sequences such as segmental duplications and pseudogenes, as well as high\/low GC-content regions may not be detected.<br>\n          Copy Number Variations (CNVs) are calculated using uniquely mapped, high-quality sequencing reads while avoiding duplicates.<br>\n          Using GC-content normalization and depth-of-sequencing coverage approaches, CNVs are detected for a subset of the target regions.<br>\n          A CNV abnormality is identified when the observed coverage deviates significantly from the expected coverage derived from baseline references.<br>\n          CNV detection is capable down to a resolution of a few exons.<br>\n          If a positive CNV is detected, it is confirmed using orthogonal methods.<br>\n          CNVs cannot be reliably detected in genomic regions containing poorly mapped areas, repetitive sequences, pseudogenes, or extreme GC content.<br><br>\n          <span class=\"bold\">Because CNV detection using NGS has lower sensitivity and specificity compared to orthogonal quantitative methods, the absence of a reported CNV does not guarantee that no CNVs exist.<\/span><br>\n          The absence of disease-causing variants in the targeted genes reduces the likelihood of disease but does not completely eliminate the possibility of disease-related syndromes.<br>\n        <\/p>\n      <\/div>\n    <\/div>\n    \n    <div class=\"accordion-wrap\">          \n      <div class=\"accordion-button\">\n        <p>Additional Information &#038; Disclosures<\/p>\n      <\/div>\n      <div class=\"accordion-text\">\n        <p>\n          The test may not identify all variants associated with the analyzed conditions.<br>\n          <span class=\"bold\">Although this test is highly accurate, the possibility of false-positive or false-negative results still exists and may be caused by technical or biological limitations.<\/span><br>\n          These include rare genetic variants, mosaicism, blood transfusions, bone marrow transplants, or other rare molecular events.<br>\n          Some unexamined genetic alterations may lead to disease conditions and are not tested by this carrier screening test.<br>\n          Although genetic testing is a crucial part of the diagnostic process, it does not always yield definitive answers. In some cases, a genetic variant may be present even if the test fails to identify it.<br>\n          This stems from current limitations in medical knowledge or laboratory technology.<br>\n          It is recommended to use this test concurrently with other clinical data and findings.<br>\n          Results should always be considered in the context of broader clinical findings.<br>\n          The referring clinician is responsible for pre- and post-test counseling, including advising on the necessity of any additional genetic testing.<br>\n          Other diagnostic procedures or tests may be necessary in some instances.\n        <\/p>\n      <\/div>\n    <\/div>\n  <\/div>\n<\/section>\n\n<style>\n.about-231 .accordion-wrap{\n  margin-bottom: 15px;\n}\n.about-231 .accordion-button p{\n  padding: 15px;\n  background-color: #f3e2e9;\n  border: 1px solid #e54c84;\n  position: relative;\n}\n.about-231 .accordion-button p:after{\n  content: '';\n  width: 10px;\n  height: 10px;\n  border-top: solid 2px #e54c84;\n  border-right: solid 2px #e54c84;\n  position: absolute;\n  right: 15px;\n  top: 35%;\n  transform: rotate(135deg);\n}\n.about-231 ul{\n  list-style: none;\n  padding: 0 0 20px;\n}\n.accordion-text{\n  display: none;\n}\n<\/style>\n\n\n\n<div class=\"kanshu-box\" style=\"border:1px solid #e54c84;border-radius:8px;padding:18px 22px;margin:28px auto;background:#fff;max-width:820px;\">\n<p style=\"font-weight:700;color:#e54c84;margin:0 0 8px;\">Supervised By<\/p>\n<p style=\"margin:0;line-height:1.9;\"><strong>Hiroshi Oka, M.D., Ph.D.<\/strong> \/ Executive Medical Director &#038; Lab Director, Hiro Clinic (Fukubukai Medical Corporation)<br>After graduating from Keio University School of Medicine, Dr. Oka passed the medical licensing examinations in both Japan and the United States. Following clinical residency, he earned his Doctorate in Medicine (Ph.D.). Holding a certified Lab Director credential\u2014a distinction held by only about 20 individuals in Japan\u2014he is dedicated to prenatal testing and genetic counseling in close collaboration with specialists in obstetrics, gynecology, pediatrics, and clinical genetics.<\/p>\n<\/div>\n\n\n\n<section class=\"lp-faq\" style=\"max-width:820px;margin:32px auto;\">\n<h2 style=\"border-bottom:2px solid #e54c84;padding-bottom:8px;\">Frequently Asked Questions<\/h2>\n<div style=\"border:1px solid #f2c4d2;border-radius:8px;padding:16px 20px;margin-bottom:12px;background:#fff9fb;\">\n<p style=\"font-weight:700;margin:0 0 6px;color:#e54c84;\">Q. What is a &#8220;carrier&#8221;?<\/p>\n<p style=\"margin:0;\">A carrier is a person who has a genetic mutation but exhibits no symptoms. As long as one copy of the gene is normal, the disorder will not develop. In Japan, approximately 70% of people are estimated to be carriers of at least one condition.<\/p>\n<\/div>\n<div style=\"border:1px solid #f2c4d2;border-radius:8px;padding:16px 20px;margin-bottom:12px;background:#fff9fb;\">\n<p style=\"font-weight:700;margin:0 0 6px;color:#e54c84;\">Q. Why do both partners need to undergo testing together?<\/p>\n<p style=\"margin:0;\">Recessive genetic disorders present a risk to the child when both the mother and father carry a mutation in the same gene. Because results from only one parent are insufficient to evaluate risk, undergoing couple\/pair testing together is crucial.<\/p>\n<\/div>\n<div style=\"border:1px solid #f2c4d2;border-radius:8px;padding:16px 20px;margin-bottom:12px;background:#fff9fb;\">\n<p style=\"font-weight:700;margin:0 0 6px;color:#e54c84;\">Q. When will I receive my results?<\/p>\n<p style=\"margin:0;\">Results will be reported via email approximately 3 weeks after the collected sample arrives at the laboratory. This report is delivered separately from <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> (blood draw) results.<\/p>\n<\/div>\n<div style=\"border:1px solid #f2c4d2;border-radius:8px;padding:16px 20px;margin-bottom:12px;background:#fff9fb;\">\n<p style=\"font-weight:700;margin:0 0 6px;color:#e54c84;\">Q. What should we do if a high risk is identified?<\/p>\n<p style=\"margin:0;\">Amniocentesis may be recommended as a diagnostic confirmatory test. By enrolling in our Amniocentesis Support program, you can receive up to \u00a5300,000 (tax included) in subsidies depending on your plan.<\/p>\n<\/div>\n<div style=\"border:1px solid #f2c4d2;border-radius:8px;padding:16px 20px;margin-bottom:12px;background:#fff9fb;\">\n<p style=\"font-weight:700;margin:0 0 6px;color:#e54c84;\">Q. Can I take this test alongside <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>?<\/p>\n<p style=\"margin:0;\">Yes, they can be combined. For patients undergoing <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, Carrier Screening Test 231 is offered at a discounted optional price. Those who are not undergoing <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> can also take this test as a standalone option.<\/p>\n<\/div>\n<div style=\"border:1px solid #f2c4d2;border-radius:8px;padding:16px 20px;margin-bottom:12px;background:#fff9fb;\">\n<p style=\"font-weight:700;margin:0 0 6px;color:#e54c84;\">Q. Is the test painful?<\/p>\n<p style=\"margin:0;\">No. The sample is collected simply by gently swabbing the inside of the cheek (buccal mucosa) with a dedicated kit. Since no blood sampling or needles are used, the test is completely painless.<\/p>\n<\/div>\n<\/section>\n<script type=\"application\/ld+json\">\n{\"@context\":\"https:\/\/schema.org\",\"@type\":\"FAQPage\",\"mainEntity\":[\n{\"@type\":\"Question\",\"name\":\"What is a \\\"carrier\\\"?\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"A carrier is a person who has a genetic mutation but exhibits no symptoms. As long as one copy of the gene is normal, the disorder will not develop. In Japan, approximately 70% of people are estimated to be carriers of at least one condition.\"}},\n{\"@type\":\"Question\",\"name\":\"Why do both partners need to undergo testing together?\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"Recessive genetic disorders present a risk to the child when both the mother and father carry a mutation in the same gene. 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For patients undergoing NIPT, Carrier Screening Test 231 is offered at a discounted optional price. Those who are not undergoing NIPT can also take this test as a standalone option.\"}},\n{\"@type\":\"Question\",\"name\":\"Is the test painful?\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"No. The sample is collected simply by gently swabbing the inside of the cheek (buccal mucosa) with a dedicated kit. Since no blood sampling or needles are used, the test is completely painless.\"}}\n]}\n<\/script>\n\n\n\n<div class=\"guide-links\" style=\"border:2px dashed #fdb0bc;border-radius:8px;padding:20px 24px;margin:28px auto;background:#fff9fb;max-width:820px;\">\n<p style=\"font-weight:700;font-size:1.15rem;color:#e54c84;margin:0 0 12px;text-align:center;\">Please Feel Free to Consult Us First<\/p>\n<p style=\"margin:0 0 14px;\">If you are unsure which test is right for you, please try our Plan Finder tool or free consultation service. We can also guide you on couple testing and combining screening with <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>.<\/p>\n<ul style=\"list-style:none;padding:0;margin:0;line-height:2.1;\">\n<li>\u25b6 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/?lang=en\">Find the Right Plan for You (Plan Finder)<\/a><\/li>\n<li>\u25b6 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/?lang=en\">Free Consultation via LINE<\/a><\/li>\n<li>\u25b6 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/option\/?lang=en\">View Optional Pricing for Carrier Screening Test 231<\/a><\/li>\n<li>\u25b6 Phone Consultation: <a href=\"tel:0120-169-629\">0120-169-629<\/a> (During business hours)<\/li>\n<\/ul>\n<\/div>\n\n\n\n<style>\n    #main_col .post_main_title {\n        display: none !important;\n    }\n\n    @media (min-width: 771px) {\n        .new-accordion .pagein_cta_button .reservation_button {\n            right: 40px;\n            padding: 0;\n            max-width: 220px;\n        }\n    }\n<\/style>\n\n\n\n<script type='text\/javascript' src='https:\/\/ajax.googleapis.com\/ajax\/libs\/jquery\/3.5.1\/jquery.min.js'>  <\/script>\n  <script>\n  \/\/ Accordion Jquery \n\n jQuery(function($) {\n  $('.accordion-button').on('click', function() {\n    if ($(this).siblings('.accordion-text').css('display') == 'none') {\n      $(this).addClass('open');\n      $(this).siblings('.accordion-text').slideDown();\n      $(this).find('.material-symbols-outlined').html('remove');\n    } else {\n      $(this).removeClass('open');\n      $(this).siblings('.accordion-text').slideUp();\n      $(this).find('.material-symbols-outlined').html('add');\n    }\n  });\n});\n  <\/script>\n\n\n\n<div class=\"newcta\">\n <a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\">\n  <p class=\"jisseki mincho\">Our NIPT Track Record <span class=\"big\">Over 75,000<span> cases<\/span><\/span><\/p>\n  <p class=\"res-btn\">Check Availability &#038; Book Now<\/p>\n <\/a>\n<\/div>\n<style>\n.newcta{\n  margin:1rem auto 2rem;\n}\n.newcta a{\n  width:100%;\n  max-width:500px;\n  margin:0 auto;\n  display:block;\n  text-decoration:none;\n  text-align:center;\n}\n.newcta p{\n  margin:0 auto;\n}\n.newcta .jisseki{\n  margin:0 auto;\n  position:relative;\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n  background: linear-gradient(to bottom, #b68d3c 0%, #e2b95f 35%, #b68d3c);\n  -webkit-background-clip: text;\n  color: rgba(0,0,0,0);\n  font-weight:bold;\n  display:inline-flex;\n  flex-wrap:wrap;\n  align-items:center;\n  justify-content:center;\n  gap:.5rem;\n  padding-bottom:1rem;\n}\n.newcta .jisseki span{\n  font-size:2rem;\n}\n.newcta .jisseki span span{\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n}\n.newcta .res-btn{\n  display:inline-block;\n  background:#f0a3b8;\n  padding:1.5rem 2rem;\n  text-align:center;\n  border-radius:1rem;\n  box-shadow:0 .5rem .5rem #f0a3b866;\n  color:#fff;\n  font-size:1.2rem;\n  font-weight:bold;\n  letter-spacing:.2rem;\n  min-width:320px;\n}\n@media screen and (max-width:500px){\n  .newcta .jisseki .big{\n    width:100%;\n  }\n  .newcta .res-btn{\n    padding:1.5rem 0;\n  }\n}\n<\/style>\n<div class=\"old-cta\">\n<div class=\"container\" style=\"padding:10px\">\n<div class=\"nipt-bnr mincho\">\n<a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\">\n<p class=\"jisseki font-s gothic\">Our NIPT Track Record<\/p>\n<p class=\"total font-m\"><span class=\"gold font-l\">68,000<\/span> cases<\/p>\n<p class=\"res font-s gothic\">Book an Appointment \u25b6\ufe0e\u25b6\ufe0e\u25b6\ufe0e<\/p>\n<\/a>\n<\/div>\n<\/div>\n<\/div>\n<div class=\"content-center\" style=\"max-width:1200px;margin:0 auto;width:90%\">\n <div class=\"image-text-block\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/20th-anniversary\/?lang=en\" style=\"max-width:825px;margin:0.5rem auto\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/06\/forplan_btn-en-1.webp\" style=\"width:100%\"><\/a>\n <\/div>\n<\/div>\n<style>\n.old-cta{\n  display:none;\n}\n.nipt-bnr{\n  display:flex;\n  justify-content:center;\n  align-items:center;\n  width:calc(100% - 3rem);\n  min-width:350px;\n  max-width:480px;\n  aspect-ratio:11 \/ 5;\n  position:relative;\n  margin:1rem auto;\n  background-image:linear-gradient(to bottom,#63513c,#63513c,#feef7b,#63513c,#63513c);\n  border-radius:8px;\n  box-shadow:6px 6px 6px #999;\n}\n.nipt-bnr .gold{\n  background:linear-gradient(to bottom,#d1ac60,#e8ca74 50%,#d29e30,#ac7726);\n  -webkit-background-clip: text;\n  -webkit-text-fill-color: transparent;\n  font-weight:bold;\n}\n.cta-btn-nipt-reservation-wimg{\n  text-decoration:none;\n  border-bottom:initial;\n}\n.label-link {\n  align-items: center;\n  text-decoration: none;\n  gap: 8px;\n}\n.image-text-block {\n  text-align: center;\n}\n.tittle_price{\n font-weight:900;\n font-size:2rem;\n color:#e54c84;\n text-align:center;\n border-bottom:none;\n margin-bottom:-10px;\n}\n.box_11 {\n  width: 12px;\n  height: 12px;\n  background-color: #e54c84;\n  border-radius: 2px;\n  flex-shrink: 0;\n}\n.center-container {\n  text-align: center;\n}\n.label-box{\ndisplay:block;\nfont-size:1.3rem !important;\nfont-weight:900;\ncolor:#e54c84;\ntext-align:right;\n}\n<\/style>\n","protected":false},"excerpt":{"rendered":"What You Will Learn &#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/autosomal-recessive-inheritance\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":80,"featured_media":0,"parent":29825,"menu_order":106,"comment_status":"closed","ping_status":"closed","template":"page_wide.php","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-70615","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/70615","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=70615"}],"version-history":[{"count":43,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/70615\/revisions"}],"predecessor-version":[{"id":134265,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/70615\/revisions\/134265"}],"up":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/29825"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=70615"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}