约 70% 的父母为携带者的携带者筛查测试（228 种）

本文要点概览

什么是“携带者（保因者）”，以及为何约 70% 的人都属于携带者
为什么夫妻/伴侣共同接受“双人联合检测”至关重要
通过携带者筛查测试 228 可排查的最多 228 种隐性遗传病
检测流程、选配套餐费用及出具结果所需的时间
发现风险时的应对方案（如羊水检查支持保障等）

约 70% 的父母是携带者？隐性基因检测的实用价值

70% 的人携带有某种基因异常（变异）。
携带此类基因异常的人被称为“携带者（保因者）”。
即使外表和身体没有任何异常，该基因仍有可能对下一代产生影响。
当夫妻双方携带有相同的基因变异时，其子女发病的概率为 25%，成为携带者的概率为 50%，继承完全正常基因的概率为 25%。

那么，针对此类人群会开展哪些检测？又能筛查出哪些疾病呢？

携带者遗传机制及夫妻共同检测的意义

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① 弘医会诊所（Hiro Clinic）的携带者筛查测试 228 是什么？

弘医会诊所（Hiro Clinic）提供产前筛查服务，可对与胎儿相关的最多 228 种严重隐性遗传病相关基因进行检测。美国妇产科学院（ACOG）与美国人类遗传学会（ASHG）均明确建议应向孕妇广泛普及此类信息，该检测在国际上也备受重视。
隐性遗传病是指当父亲和母亲双方携带有同一种基因变异时，子女有可能发病的遗传性疾病。本检测通过采集父亲和母亲的口腔黏膜（腮帮内侧）样本提取基因进行筛查，以确认夫妻双方是否携带有相同的基因变异。

弘医会诊所（Hiro Clinic）的调查数据显示，约 70% 的人都携带有 1 个或以上的隐性基因变异。这种情况被称为“携带者（保因者）”，即即便外表与身体状况没有任何异常，仍有可能将变异基因遗传给下一代。

当夫妻双方携带有相同的基因变异时，子女将面临以下概率的病发风险：

25%（每 4 人中有 1 人）的概率发病
50%（每 2 人中有 1 人）的概率为携带者（无症状）
25%（每 4 人中有 1 人）的概率完全正常

若通过本检测评估出高风险，通常会建议进一步接受羊水检查作为确诊手段。

② 基因“变异”可能会引发疾病

我们的身体是根据被称为“基因”的蓝图信息构建而成的。人体约有 2 万个基因，并由父母遗传给子女。它们是决定发色、身高、体质等各种特征的重要信息。
然而，这份蓝图偶尔也会发生变异。正是这种变异，可能会导致特定疾病的发生。
例如，通过“隐性遗传”机制引发的疾病，只有当子女同时从父亲和母亲双方继承了同一种类型的基因变异时才会发病。如果仅单亲一方携带有变异，子女本人并不会患上该隐性遗传病。
隐性遗传疾病的一个典型示例，是位于 15 号染色体上的“OCA2”基因变异。如果子女从父母双方各继承 1 个（共计 2 个）该变异基因，身体将无法合成一种被称为“P 蛋白”的物质——而这种蛋白质对于生成决定皮肤、头发和眼睛颜色的“黑色素”至关重要。结果，由于无法生成黑色素，就会患上导致皮肤和头发变白的“眼皮肤白化病（Oculocutaneous Albinism）”。

此外，由与性别相关的“X 染色体”基因异常所引起的疾病（X 连锁隐性遗传病），其显著特点是更容易在男孩身上发病。由于男性仅有 1 条 X 染色体，一旦该染色体存在变异，便没有其他染色体可以替代，因而极易发病。相比之下，女性拥有 2 条 X 染色体，即便其中 1 条存在异常，只要另一条正常，其功能就可以得到弥补，因此相对不易发病。

③ 任何人都可能遇到的遗传性疾病

隐性遗传病常被误以为十分罕见，但实际上其种类超过 3000 种。如果将所有此类疾病加总计算，每 100 对夫妻中就有 1〜2 对可能会生育患有遗传性疾病的宝宝。也就是说，这与我们每个人都息息相关。
因此，通过在孕前或备孕阶段接受检测，即便万一评估出高风险，也能冷静地采取应对措施。例如，可以选择通过体外受精（试管婴儿）挑选健康的胚胎，或者在怀孕后接受羊水检查以确认胎儿的具体状况等。

④ 有助于保障母体与胎儿的健康管理

携带者筛查测试 228 不仅能帮助了解评估胎儿的患病风险，对孕妇自身的健康管理也大有裨益。例如，若能提前预知孕期需要特别注意的出血倾向或心脏疾病风险等，医生也能提前做好充分的应对准备。

正因如此，携带者筛查测试 228 能为安心备孕、顺利生产提供强有力的支持。弘医会诊所（Hiro Clinic）支持将其与 NIPT（无创产前检测）联合使用，针对已接受 NIPT 检测的受检者，可以优惠的选配套餐价格办理携带者筛查测试 228。当然，未接受 NIPT 检测的人群也可单独进行此项检测。

⑤ 日本人群特有的遗传风险

在过去的日本，表亲等近亲结婚的情况较为普遍，这使得某些特定的基因变异更容易在人群中留存下来。因此，也形成了一些在日本人群中发病率较高的遗传性疾病。
例如，在与眼部相关的遗传病中，已证实“视网膜色素变性”和“白点状眼底”等疾病在日本人群中的发生率相对较高。特别值得注意的是，研究表明“EYS”基因变异是导致日本人患视网膜色素变性最常见的原因。这些疾病大多由特定的基因突变所致，其实比想象中更为常见。

此类特定于日本人群的基因变异，往往未被收录在海外的基因数据库中。因此，专为日本人群量身定制的“携带者筛查测试 228”具有极其重要的临床意义。

⑥ 迈向未来的医疗——构建公平且人人享有选择权的社会

未来的医疗重点将从“患病后再治疗”转变为“预防疾病于未然”。携带者筛查测试 228 正是迈向这一目标的第一步。
在澳大利亚和荷兰，将隐性基因检测纳入国家医疗保障体系的举措正在积极推进。在日本，建立涵盖医保报销的政策制度、确保所有伴侣都能公平地接受检测，也是社会各界的普遍诉求。
弘医会诊所（Hiro Clinic）强烈推荐将“携带者筛查测试 228”作为婚前/备孕检查的一环，由夫妻/伴侣双方共同参与检测。提前接受检测能够为规划未来的生活以及妊娠、分娩提供极其关键的决策依据。夫妻双方共同分享检测结果，可以更加从容、安心地做好迎接新生命的准备。
此外，对出生后的新生儿开展携带者筛查测试 228，不仅有助于早期发现未来的健康风险，还能实现个性化的精准健康管理。检测仅需轻拭口腔内侧黏膜采集样本，过程完全无痛。
这项检测是一份为了守护未来新生命而选择“提前知情”的权利。将这一深受美国权威学会推荐的检测项目在日本广泛普及，让更多人拥有知情与选择的权利，正是未来医疗发展所肩负的使命。

参考与引用文献

Li, Huanyun, et al. ‘P806: Application Value of Noninvasive Prenatal Diagnosis of Recessive Monogenic Genetic Diseases Based on Relative Haplotype Dosage Changes’. Genetics in Medicine Open, vol. 3, 2025, p. 103175. DOI.org (Crossref), https://doi.org/10.1016/j.gimo.2025.103175.
Temaj, G., et al. ‘The Impact of Consanguinity on Human Health and Disease with an Emphasis on Rare Diseases’. Journal of Rare Diseases, vol. 1, no. 1, Dec. 2022, p. 2. DOI.org (Crossref), https://doi.org/10.1007/s44162-022-00004-5.
Peterlin, Borut, and Ana Peterlin. ‘Carrier Screening and Pregnancy’. Best Practice & Research Clinical Obstetrics & Gynaecology, vol. 100, June 2025, p. 102601. DOI.org (Crossref), https://doi.org/10.1016/j.bpobgyn.2025.102601.
Hotta, Yoshihiro, et al. ‘Ocular Genetics in the Japanese Population’. Japanese Journal of Ophthalmology, vol. 68, no. 5, Sept. 2024, pp. 401–18. DOI.org (Crossref), https://doi.org/10.1007/s10384-024-01109-8.
Wang, Tianjiao, et al. ‘An Overview of Reproductive Carrier Screening Panels for Autosomal Recessive and/or X‐linked Conditions: How Much Do We Know?’ Prenatal Diagnosis, vol. 43, no. 11, Oct. 2023, pp. 1416–24. DOI.org (Crossref), https://doi.org/10.1002/pd.6434.
Dive, Lisa, et al. ‘Ethical Considerations in Gene Selection for Reproductive Carrier Screening’. Human Genetics, vol. 141, no. 5, May 2022, pp. 1003–12. DOI.org (Crossref), https://doi.org/10.1007/s00439-021-02341-9.
Edwards, Samantha, and Nigel Laing. ‘Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review’. Journal of Personalized Medicine, vol. 12, no. 10, Oct. 2022, p. 1699. DOI.org (Crossref), https://doi.org/10.3390/jpm12101699.
Prabhu, Akshatha. ‘Fetal Medicine and Current Practice of Prenatal Screening’. Apollo Medicine, vol. 20, no. 2, June 2023, pp. 135–38. DOI.org (Crossref), https://doi.org/10.4103/am.am_60_23.
Veneruso, Iolanda, et al. ‘Current Updates on Expanded Carrier Screening: New Insights in the Omics Era’. Medicina, vol. 58, no. 3, Mar. 2022, p. 455. DOI.org (Crossref), https://doi.org/10.3390/medicina58030455.
Srinivasan, Balaji S., et al. ‘A Universal Carrier Test for the Long Tail of Mendelian Disease’. Reproductive BioMedicine Online, vol. 21, no. 4, Oct. 2010, pp. 537–51. DOI.org (Crossref), https://doi.org/10.1016/j.rbmo.2010.05.012.
Nguengang Wakap, Stéphanie, et al. ‘Estimating Cumulative Point Prevalence of Rare Diseases: Analysis of the Orphanet Database’. European Journal of Human Genetics, vol. 28, no. 2, Feb. 2020, pp. 165–73. www.nature.com, https://doi.org/10.1038/s41431-019-0508-0.
Chung, Brian Hon Yin, et al. ‘Rare versus Common Diseases: A False Dichotomy in Precision Medicine’. Npj Genomic Medicine, vol. 6, no. 1, Feb. 2021, p. 19. DOI.org (Crossref), https://doi.org/10.1038/s41525-021-00176-x.
Faye, Fatoumata, et al. ‘Time to Diagnosis and Determinants of Diagnostic Delays of People Living with a Rare Disease: Results of a Rare Barometer Retrospective Patient Survey’. European Journal of Human Genetics, vol. 32, no. 9, Sept. 2024, pp. 1116–26. DOI.org (Crossref), https://doi.org/10.1038/s41431-024-01604-z.
Laing, Nigel G., et al. ‘Genetic Neuromuscular Disorders: What Is the Best That We Can Do?’ Neuromuscular Disorders, vol. 31, no. 10, Oct. 2021, pp. 1081–89. DOI.org (Crossref), https://doi.org/10.1016/j.nmd.2021.07.007.
https://www.info.pmda.go.jp/downfiles/md/PDF/200880/200880_28B3X10006000050_A_01_01.pdf

可排查的疾病数量、检测机构与费用

弘医会诊所（Hiro Clinic）提供两种携带者筛查：标准检测可排查228 种隐性遗传病（220,000 日元（含税）），另有先进行全外显子组分析、可排查1,200 种以上的检测（330,000 日元（含税））。两者均只需采集口腔内侧黏膜，对身体没有负担。

检测种类	排查范围	费用（含税）	检测机构所在地	出结果所需时间
携带者筛查测试 228标准	228 种	220,000 日元	日本国内	约 3 周
携带者筛查测试 1,200＋先进行全外显子组分析	1,200 种以上	330,000 日元	日本国内	5～7 周

检测流程

携带者筛查测试 228 的全流程仅需 3 个步骤：前往诊所申请、采集口腔黏膜（口腔内部）样本，以及约 3 周后通过电子邮件接收报告。

步骤 1

在诊所申请检测

申请时需填写孕妇及伴侣的同意书
采样套件将在您到诊时当场发放
※孕妇与伴侣请务必共同前往诊所

步骤 2

请使用采样棒轻轻擦拭口腔黏膜（口腔内侧腮帮）以采集细胞样本
※采样前 30 分钟内请勿吸烟、饮食、刷牙或咀嚼口香糖
采集完毕后，请将样本交还诊所即可返家

步骤 3

获取检测报告

约 3 周后，检测结果将通过电子邮件发送给您
※本报告与孕妇静脉采血开展的检测报告相互独立
※检测报告出具时间约为样本送达检测中心后 3 周左右

携带者筛查测试 228 的
选配附加费用

与 NIPT 联合申请时，携带者筛查测试 228 可享受优惠的选配套餐价格。本检测也可单独进行。

点击查看选配附加费用

关于隐性遗传病的发病机制

人类拥有两套染色体，分别遗传自母亲和父亲。

隐性遗传病是指在这两套染色体的同一位置上的基因均存在异常时才会发病的疾病。即便来自母亲或父亲一方的染色体存在异常，只要另一方的染色体正常，就不会发病。只要另一侧基因正常，个体就不会患病，此时该个体被称为“携带者”。

近亲通婚会增加下一代的发病风险，正是因为在血缘亲属之间，夫妻双方成为相同基因携带者的可能性大幅提高。例如，某种发病率为四万分之一的罕见疾病，其携带者在人群中估计约为百人中的一人。这是基于“1/100 × 1/100 × 1/4 = 1/40,000”的概率计算得出的。因此，如果对 100 种不同的遗传病进行筛查，几乎所有人都有可能携带有某种疾病的变异基因。

那么，如果在本院的检测中发现夫妻双方在基因的同一位置均存在异常，会发生什么情况呢？

如果夫妻双方机缘巧合地在相同位置的基因上均携带有异常，其子女将面临患隐性遗传病的风险。因为在该基因位置上缺乏正常的拷贝，从而可能导致疾病的发作。

胎儿有 1/4（每 4 人中 1 人）的概率发病。
有 1/2（每 2 人中 1 人）的概率成为携带者。
有 1/4（每 4 人中 1 人）的概率完全正常。

如何对此进行确诊检测呢？

排查基因异常最准确的方法之一就是羊水检查。该检测通过提取羊水中获取的胎儿细胞来进行基因分析。

加入我们的“羊水检查补贴保障”后，根据所选套餐，最高可获得 30 万日元（含税）的费用补助，在大多数情况下可全额覆盖羊水检查费用，实现零自费受检。
如需申请或了解检测详情，请随时咨询弘医会诊所（Hiro Clinic）。

Our NIPT Track Record Over 75,000 cases

Check Availability & Book Now

Our NIPT Track Record

68,000 cases

Book an Appointment ▶︎▶︎▶︎

在Hiro 诊所 NIPT 可排查的隐性遗传病

在携带者筛查测试 228 中，可以检测以下最多 228 种隐性遗传病致病基因。您可以点击感兴趣的疾病名称查看详细信息页面。

疾病名称	疾病英文名	在本院可检测的基因	发生染色体	详细信息
3-羟基-3-甲基戊二酸血症	3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency	HMGCL	1p36.1	この疾患の詳細はこちら
莱迪希细胞发育不全（黄体生成素抵抗）	Leydig Cell Hypoplasia [Luteinizing Hormone Resistance]	LHCGR	2p16.3	この疾患の詳細はこちら
3-甲基辅酶A羧化酶缺乏症 1型	3-Methylcrotonyl-CoA Carboxylase Deficiency 1	MCCC1	3q27.1	この疾患の詳細はこちら
肢带型肌营养不良 2E型	Limb Girdle Muscular Dystrophy, Type 2E	SGCB	4q12	この疾患の詳細はこちら
复合羧化酶缺乏症（3-甲基辅酶A羧化酶缺乏症 2型）	3-Methylcrotonyl-CoA Carboxylase Deficiency 2	MCCC2	5q13.2	―
二氢硫辛酰胺脱氢酶缺乏症（枫糖尿病 III型）	Lipoamide Dehydrogenase Deficiency [Maple Syrup Urine Disease, Type 3]	DLD	7q31.1	この疾患の詳細はこちら
无β脂蛋白血症	Abetalipoproteinemia	MTTP	4q23	この疾患の詳細はこちら
脂蛋白脂酶缺乏症	Lipoprotein Lipase Deficiency	LPL	8p21.3	この疾患の詳細はこちら
酰基辅酶A氧化酶 I 缺乏症	Acyl-CoA Oxidase I Deficiency	ACOX1	17q25.1	この疾患の詳細はこちら
欧曼综合征（RAG2相关）	Omenn Syndrome (RAG2-related)	RAG2	11p12	この疾患の詳細はこちら
神经棘红细胞增多症	Chorea-acanthocytosis	VPS13A	9q21.2	この疾患の詳細はこちら
鸟氨酸氨基转移酶缺乏症	Ornithine Aminotransferase Deficiency	OAT	10q26.13	この疾患の詳細はこちら
X连锁脉络膜缺损/脉络膜缺失症	Choroideremia, X-Linked	CHM	Xq21.2	この疾患の詳細はこちら
高鸟氨酸血症-高氨血症-同型瓜氨酸尿症（HHH）综合征	Ornithine Translocase Deficiency Hyperornithinemia-Hyperammonemia -Homocitrullinuria (HHH) Syndrome]	SLC25A15	13q14.11	この疾患の詳細はこちら
希特林蛋白缺乏症	Citrin Deficiency	SLC25A13	7q21.3	この疾患の詳細はこちら
彭德莱综合征（Pendred综合征）	Pendred Syndrome	SLC26A4	7q22.3	この疾患の詳細はこちら
复合氧化磷酸化缺乏症 3型	Combined Oxidative Phosphorylation Deficiency 3	TSFM	12q14.1	この疾患の詳細はこちら
齐薇格谱系障碍（PEX1相关）	Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related)	PEX1		この疾患の詳細はこちら
先天性糖基化异常症 I型（PMM2相关）	Congenital Disorder of Glycosylation, Type 1A (PMM2-related)	PMM2	16p13.2	この疾患の詳細はこちら
齐薇格谱系障碍（PEX2相关）	Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX2-related)	PEX2		この疾患の詳細はこちら
遗传性果糖不耐受症	Hereditary Fructose Intolerance	ALDOB	9q31.1	この疾患の詳細はこちら
齐薇格谱系障碍（PEX1相关）	Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related)	PEX1	7q21.2	この疾患の詳細はこちら
同型半胱氨酸尿症 cblE型	Homocystinuria, Type cblE	MTRR	5p15.31	この疾患の詳細はこちら
X连锁重症联合免疫缺陷病	Severe Combined Immunodeficiency, X-Linked	IL2RG	Xq13.1	この疾患の詳細はこちら
水脑致命性综合征（Hydrolethalus综合征）	Hydrolethalus Syndrome	HYLS1	11q24.2	この疾患の詳細はこちら
镰状细胞贫血症	Sickle-Cell Disease	HBB	11p15.4	この疾患の詳細はこちら
包涵体肌病 II型（GNE肌病）	Inclusion Body Myopathy, Type 2	GNE	9p13.3	この疾患の詳細はこちら
舍格伦-拉松综合征（Sjögren-Larsson综合征）	Sjögren-Larsson Syndrome	ALDH3A2	17p11.2	この疾患の詳細はこちら
异戊酸血症	Isovaleric Acidemia	IVD	15q15.1	この疾患の詳細はこちら
原发性肾病综合征（激素抵抗型）	Steroid-Resistant Nephrotic Syndrome	NPHS2	1q25.2	この疾患の詳細はこちら
甲基丙二酸血症 MUT0型	Methylmalonic Aciduria, Type Mut(0)	MMACHC	1p34.1	この疾患の詳細はこちら
斯蒂夫-维德曼综合征（Stüve-Wiedemann综合征）	Stuve-Wiedemann Syndrome	LIFR	5p13.1	この疾患の詳細はこちら
伴同型半胱氨酸尿症的甲基丙二酸血症 cblD型	Methylmalonic Aciduria and Homocystinuria, Type cblD	MMADHC	2q23.2	この疾患の詳細はこちら
巴比综合征（BBS12相关）	Bardet Biedl Syndrome (BBS12-related)	BBS12	4q27	この疾患の詳細はこちら
粘多糖贮积症 II型（亨特综合征，X连锁）	Mucopolysaccharidosis, Type II [Hunter Syndrome], X-Linked	IDS	Xq28	この疾患の詳細はこちら
β-地中海贫血	Beta Thalassemia	HBB	11p15.4	この疾患の詳細はこちら
粘多糖贮积症 III型（桑菲利波综合征 C型）	Mucopolysaccharidosis, Type IIIC [Sanfilippo C]	HGSNAT	8p11.21-p11.1	この疾患の詳細はこちら
生物素酶缺乏症	Biotinidase Deficiency	BTD	3p25.1	この疾患の詳細はこちら
多种硫酸酯酶缺乏症	Multiple Sulfatase Deficiency	SUMF1	3p26	この疾患の詳細はこちら
卡纳万病（Canavan病）	Canavan Disease	ASPA	17p13.2	この疾患の詳細はこちら
原发性纤毛运动障碍（DNAH5相关）	Primary Ciliary Dyskinesia (DNAH5-related)	DNAH5	5p15.2	この疾患の詳細はこちら
卡彭特综合征（Carpenter综合征）	Carpenter Syndrome	RAB23	6p12.1-p11.2	この疾患の詳細はこちら
原发性纤毛运动障碍（DNAI1相关）	Primary Ciliary Dyskinesia (DNAI1-related)	DNAI1	14q24.3	この疾患の詳細はこちら
糖原贮积症 I型（Ia型）	Glycogen Storage Disease, Type 1A(BBS12-related)	G6PC	17q21	この疾患の詳細はこちら
原发性高草酸尿症 3型	Primary Hyperoxaluria, Type 3	HOGA1	10q24.2	この疾患の詳細はこちら
糖原贮积症 I型（Ib型）	Glycogen Storage Disease, Type 1B	SLC37A4	11q23.3	この疾患の詳細はこちら
致密性骨发育不全	Pycnody sostosis	CTSK	1q21.3	この疾患の詳細はこちら
糖原贮积症 III型	Glycogen Storage Disease, Type 3	AGL	1p21.2	この疾患の詳細はこちら
丙酮酸脱氢酶缺乏症（PDHB相关）	Pyruvate Dehydrogenase Deficiency (PDHB-Related)	PDHB	3p14.3	この疾患の詳細はこちら
糖原贮积症 VII型	Glycogen Storage Disease, Type 7	PFKM	12q13.11	この疾患の詳細はこちら
艾卡迪-古蒂埃综合征（Aicardi-Goutières综合征）	Aicardi-Goutières Syndrome	SAMHD1	20q11.23	この疾患の詳細はこちら
GRACILE综合征（生长迟缓-氨基酸尿-胆汁淤积-铁过载-乳酸酸中毒-早期发作综合征）	GRACILE Syndrome	BCS1L	2q35	この疾患の詳細はこちら
阿尔波特综合征（X连锁）	Alport Syndrome, X-Linked	COL4A5	Xq22.3	この疾患の詳細はこちら
长链3-羟酰辅酶A脱氢酶缺乏症	Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency	HADHA	2p23	この疾患の詳細はこちら
阿尔斯特雷姆综合征（Alström综合征）	Alstrom Syndrome	ALMS1	2p13.1	この疾患の詳細はこちら
赖氨酸尿性蛋白不耐受症	Lysinuric Protein Intolerance	SLC7A7	14q11.2	この疾患の詳細はこちら
安德曼综合征（Andermann综合征）	Andermann Syndrome	SLC12A6	15q14	この疾患の詳細はこちら
枫糖尿病 1B型	Maple Syrup Urine Disease, Type 1B	BCKDHB	6q14.1	この疾患の詳細はこちら
芳香化酶缺乏症	Aromatase Deficiency	CYP19A1	15q21.2	この疾患の詳細はこちら
甲基丙二酸血症（MMAA相关）	Methylmalonic Acidemia (MMAA-related)	MMAA	4q31.21	この疾患の詳細はこちら
重症先天性粒细胞缺乏症（HAX1相关）	Congenital Neutropenia (HAX1-related)	HAX1	1q21.3	この疾患の詳細はこちら
克里格勒-纳贾尔综合征 I型（Crigler-Najjar综合征 I型）	Crigler Najjar Syndrome, Type I	UGT1A1	2q37.1	この疾患の詳細はこちら
齐薇格谱系障碍（PEX2相关）	Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX2-related)	PEX2	8q21.13	この疾患の詳細はこちら
囊性纤维化	Cystic Fibrosis	CFTR	7q31.2	この疾患の詳細はこちら
苯丙酮尿症	Phenylketonurea	PAH	12q23.2	この疾患の詳細はこちら
凝血因子 XI 缺乏症	Factor XI Deficiency	F11	4q35.2	この疾患の詳細はこちら
脑桥小脑发育不全 1A型	Pontocerebellar Hypoplasia, Type 1A	VRK1	14q32.2	この疾患の詳細はこちら
脑桥小脑发育不全 2D型	Pontocerebellar Hypoplasia, Type 2D	SEPSECS	4p15.2	この疾患の詳細はこちら
朱伯特综合征相关疾病（Joubert综合征 2型）	Joubert Syndrome, Type 2	TMEM216	11q12.2	この疾患の詳細はこちら
脑桥小脑发育不全 2E型	Pontocerebellar Hypoplasia, Type 2E	VPS53	17p13.3	この疾患の詳細はこちら
交界型表皮松解症（Herlitz型）	Junctional Epidermolysis Bullosa, Herlitz Type	LAMC2	1q25.3	この疾患の詳細はこちら
泰-萨克斯病（Tay-Sachs病）	Tay-Sachs Disease	HEXA	15q23	この疾患の詳細はこちら
板层状鱼鳞病 1型	Lamellar Ichthyosis, Type 1	TGM1	14q12	この疾患の詳細はこちら
阿셔综合征 1F型（Usher综合征 1F型）	Usher Syndrome, Type 1F	PCDH15	10q21.1	この疾患の詳細はこちら
利伯先天性黑蒙（LCA5相关）	Leber Congenital Amaurosis (LCA5-related)	LCA5	6q14.1	この疾患の詳細はこちら
阿셔综合征 3型（Usher综合征 3型）	Usher Syndrome, Type 3	CLRN1	3q25.1	この疾患の詳細はこちら
李氏脑病（法裔加拿大型）	Leigh Syndrome, French-Canadian Type	LRPPRC	2p21	この疾患の詳細はこちら
沃尔曼病（Wolman病）	Wolman Disease	LIPA	10q23.31	この疾患の詳細はこちら
X连锁肌管性肌病	Myotubular Myopathy, X-Linked	MTM1	Xq28	この疾患の詳細はこちら
3-甲基戊二烯酸尿症	3-Methylglutaconic Aciduria, Type 3 [Costeff Syndrome],	OPA3		この疾患の詳細はこちら
纳瓦霍神经肝病（MPV17相关肝脑型线粒体DNA枯竭综合征）	Navajo Neurohepatopathy [MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome]	MPV17	2p23.3	この疾患の詳細はこちら
无β脂蛋白血症	Abetalipoproteinemia	MTTP		この疾患の詳細はこちら
神经元蜡样脂质沉积症（CLN8相关）	Neuronal Ceroid Lipofuscinosis (CLN8-related)	CLN8	8p23	この疾患の詳細はこちら
精氨基琥珀酸裂解酶缺乏症	Argininosuccinate Lyase Deficiency, ASL	ASL		この疾患の詳細はこちら
神经元蜡样脂质沉积症（MFSD8相关）	Neuronal Ceroid Lipofuscinosis (MFSD8-related)	MFSD8	4q28.2	この疾患の詳細はこちら
共济失调性毛细血管扩张症	Ataxia-Telangiectasia, ATM	ATM		この疾患の詳細はこちら
神经元蜡样脂质沉积症（TPP1相关）	Neuronal Ceroid Lipofuscinosis (TPP1-related)	TPP1	11p15.4	この疾患の詳細はこちら
夏洛瓦-萨格奈常染色体隐性痉挛性共济失调症（SACS）	Autosomal Recessive Spastic Ataxia of Charlevoix- Saguenay, SACS	SACS		この疾患の詳細はこちら
奈梅亨染色体断裂综合征（Nijmegen综合征）	Nijmegen Breakage Syndrome	NBN	8q21.3	この疾患の詳細はこちら
原发性免疫缺陷综合征（裸淋巴细胞综合征 CIITA相关）	Bare Lymphocyte Syndrome (CIITA-related), CIITA	CIITA		この疾患の詳細はこちら
视网膜营养不良（RLBP1相关，波斯尼亚视网膜营养不良）	Retinal Dystrophy (RLBP1-related) [Bothnia Retinal Dystrophy]	RLBP1	15q26.1	この疾患の詳細はこちら
线粒体疾病（复合氧化磷酸化缺乏症 1型，GFM1相关）	“Combined Oxidative Phosphorylation Deficiency 1, GFM1”	GFM1		この疾患の詳細はこちら
芬兰型先天性肾病综合征	Congenital Finnish Nephrosis, NPHS1	NPHS1		この疾患の詳細はこちら
视网膜色素变性 25型（EYS相关）	Retinitis Pigmentosa 25 (EYS-related)	EYS	6q12	この疾患の詳細はこちら
先天性肌无力综合征（RAPSN相关）	“Congenital Myasthenic Syndrome (RAPSN-related), RAPSN”	RAPSN		この疾患の詳細はこちら
视网膜色素变性 59型（DHDDS相关）	Retinitis Pigmentosa 59 (DHDDS-related)	DHDDS	1p36.11	この疾患の詳細はこちら
角膜内皮营养不良（角膜营养不良伴感觉性耳聋）	Corneal Dystrophy and Perceptive Deafness, SLC4A11	SLC4A11		この疾患の詳細はこちら
桑菲利波综合征 D型（粘多糖贮积症 IIID型）	Sanfilippo Syndrome, Type D [Mucopolysaccharidosis IIID]	GNS	12q14.3	この疾患の詳細はこちら
脑肌酸缺乏综合征（X连锁肌酸转运体缺陷）	Creatine Transporter Defect [Cerebral Creatine Deficiency Syndrome 1] X-Linked, SLC6A8	SLC6A8		この疾患の詳細はこちら
重症联合免疫缺陷病（阿萨巴斯卡型）	Severe Combined Immunodeficiency, Type Athabaskan	DCLRE1C	10p13	この疾患の詳細はこちら
胱氨酸病（胱氨酸贮积症）	Cystinosis, CTNS	CTNS		この疾患の詳細はこちら
SLC35A3突变所致关节弯曲、精神迟滞及癫痫发作	Arthrogryposis Mental Retardation Seizures	SLC35A3	1p21.2	この疾患の詳細はこちら
杜氏肌营养不良症（X连锁）	Duchenne Muscular Dystrophy, X-linked, DMD l	DMD		この疾患の詳細はこちら
埃默里-德赖弗斯型肌营养不良 1型（X连锁）	Emery-Dreifuss Muscular Dystrophy 1, X-Linked, EMD	EMD		この疾患の詳細はこちら
天冬酰胺合成酶缺乏症	Asparagine Synthetase Deficiency	ASNS	7q21.3	この疾患の詳細はこちら
法布雷病（X连锁）	Fabry Disease, X-Linked, GLA	GLA		この疾患の詳細はこちら
天冬酰基氨基葡萄糖尿症	Aspartylglycosaminuria	AGA	4q34.3	この疾患の詳細はこちら
家族性地中海热	Familial Mediterranean Fever, MEFV	MEFV		この疾患の詳細はこちら
常染色体隐性多囊肾病	Autosomal Recessive Polycystic Kidney Disease	PKHD1	6p12.3-p12.2	この疾患の詳細はこちら
半乳糖-1-磷酸尿苷酰转移酶缺乏症（经典型半乳糖血症）	Galactosemia, GALT u	GALT		この疾患の詳細はこちら
巴比综合征（BBS1相关）	Bardet-Biedl Syndrome (BBS1-related)	BBS1	11q13.2	この疾患の詳細はこちら
遗传性血色病 3型（TFR2相关）	Hemochromatosis, Type 3 (TFR2-related), TFR2	TFR2		この疾患の詳細はこちら
范可尼贫血 C型	Fanconi Anemia, Type C	FANCC	9q22.32	この疾患の詳細はこちら
眼皮肤白化病（赫曼斯基-普德拉克综合征 HPS3相关）	Hermansky-Pudlak Syndrome (HPS3-related), HPS3	HPS3		この疾患の詳細はこちら
范可尼贫血 G型	Fanconi Anemia, Type G	FANCG	9p13.3	この疾患の詳細はこちら
低磷酸酯酶症（ALPL相关）	Hypophosphatasia (ALPL-related), ALPL	ALPL		この疾患の詳細はこちら
3-磷酸甘油酸脱氢酶缺乏症	“3-Phosphoglycerate Dehydrogenase Deficiency, PHGDH”	PHGDH		この疾患の詳細はこちら
戈谢病（Gaucher病）	Gaucher Disease	GBA	1q21	この疾患の詳細はこちら
戊二酸血症 IIA型	Glutaric Acidemia, Type 2A	ETFA	15q24.2-q24.3	この疾患の詳細はこちら
非酮症性高甘氨酸血症（甘氨酸脑病，GLDC相关）	Glycine Encephalopathy (GLDC-related)	GLDC	9p24.1	この疾患の詳細はこちら
脑白质消失病（脑白质消退症）	Leukoencephalopathy with Vanishing White Matter	EIF2B5	3q27.1	この疾患の詳細はこちら
α地中海贫血（HBA1相关）	Alpha-Thalassemia (HBA1-related)	HBA1	16p13.3	この疾患の詳細はこちら
α地中海贫血（HBA2相关）	Alpha-Thalassemia (HBA2-related)	HBA2	16p13.3	この疾患の詳細はこちら
全羧化酶合成酶缺乏症	Holocarboxylase Synthetase Deficiency	HLCS	21q22.13	この疾患の詳細はこちら
肉碱棕榈酰转移酶ⅠA缺乏症	Carnitine Palmitoyltransferase 1A Deficiency	CPT1A	11q13.3	―
软骨不发育症ⅠB型	Achondrogenesis, Type 1B	SLC26A2	5q32	了解该疾病详情

疾病名称	疾病英文名	在本院可检测的基因	详细信息
自身免疫性多腺体综合征 1型	Autoimmune Polyglandular Syndrome, Type 1, AIRE	AIRE	この疾患の詳細はこちら
胶样滴状角膜营养不良（巴特综合征 BSND相关）	Bartter Syndrome (BSND-related), BSND	BSND	―
复合性垂体前叶激素缺乏症 3型	Pituitary Hormone Deficiency, Combined 3, LHX3	LHX3	この疾患の詳細はこちら
先天性巨结肠症（软骨毛发发育不良症）	Cartilage-Hair Hypoplasia, RMRP	RMRP	この疾患の詳細はこちら
瓜氨酸血症 1型（精氨基琥珀酸合成酶缺乏症）	Citrullinemia, Type 1, ASS1	ASS1	この疾患の詳細はこちら
原发性高草酸尿症 2型	Primary Hyperoxaluria, Type 2, GRHPR	GRHPR	この疾患の詳細はこちら
先天性糖基化异常症 1B型	Congenital Disorder of Glycosylation, Type 1B, MPI	MPI	この疾患の詳細はこちら
先天性无痛无汗症	“Congenital Insensitivity to Pain with Anhidrosis, NTRK1”	NTRK1	この疾患の詳細はこちら
醛固酮合成酶缺乏症（皮质酮甲基氧化酶缺乏症）	Corticosterone Methyloxidase Deficiency, CYP11B2	CYP11B2	この疾患の詳細はこちら
视网膜色素变性 26型	Retinitis Pigmentosa 26, CERKL	CERKL	この疾患の詳細はこちら
D-双功能蛋白（DBP）缺乏症	D-Bifunctional Protein Deficiency, HSD17B4	HSD17B4	この疾患の詳細はこちら
肢根型点状软骨发育不良 1型（RCDP1）	Rhizomelic Chondrodysplasia Punctata, Type 1, PEX7	PEX7	この疾患の詳細はこちら
营养不良型表皮松解症（COL7A1相关）	“Dystrophic Epidermolysis Bullosa (COL7A1-related), COL7A1”	COL7A1	この疾患の詳細はこちら
萨拉病（Salla病）	Salla Disease, SLC17A5	SLC17A5	この疾患の詳細はこちら
濑川综合征（TH相关）	Segawa Syndrome, (TH-related), TH	TH	この疾患の詳細はこちら
增强型S-视锥细胞综合征（NR2E3变异相关视网膜变性）	Enhanced S-Cone Syndrome, NR2E3	NR2E3	この疾患の詳細はこちら
凝血因子 IX 缺乏症（X连锁，乙型血友病）	Factor IX Deficiency, X-Linked, F9	F9	この疾患の詳細はこちら
泰-萨克斯病（HEXA基因变异）	Tay-Sachs Disease, HEXA u	HEXA遺伝子	この疾患の詳細はこちら
家族性肾性尿崩症（AQP2相关）	Familial Nephrogenic Diabetes Insipidus (AQP2- related), AQP2	AQP2	この疾患の詳細はこちら
威尔逊病（Wilson病）	Wilson Disease, ATP7B	ATP7B	この疾患の詳細はこちら
糖原贮积症 IV型	Glycogen Storage Disease, Type 4, GBE1	GBE1	この疾患の詳細はこちら
6-丙酮酰四氢蝶呤合成酶（PTPS）缺乏症	6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency, PTS	PTS	この疾患の詳細はこちら
全色盲（CNGB3相关）	Achromatopsia (CNGB3-related), CNGB3	CNGB3	この疾患の詳細はこちら
肾上腺脑白质营养不良（X连锁）	Adrenoleukodystrophy, X-Linked, ABCD1	ABCD1	この疾患の詳細はこちら
肢带型肌营养不良 2A型	Limb-Girdle Muscular Dystrophy, Type 2A, CAPN3	CAPN3	この疾患の詳細はこちら
阿尔波特综合征（COL4A3相关）	Alport Syndrome (COL4A3-related), COL4A3	COL4A3	この疾患の詳細はこちら
肢带型肌营养不良 2D型	Limb-Girdle Muscular Dystrophy, Type 2D, SGCA	SGCA	この疾患の詳細はこちら
伴维生素E缺乏的共济失调症	Ataxia with Vitamin E Deficiency, TTPA	TTPA	この疾患の詳細はこちら
脂质性先天性肾上腺皮质增生症	Lipoid Adrenal Hyperplasia, STAR	STAR	この疾患の詳細はこちら
巴滕病（Batten病，CLN3相关）	Batten Disease (CLN3-related), CLN3	CLN3	この疾患の詳細はこちら
中链酰基辅酶A脱氢酶缺乏症	“Medium Chain Acyl-CoA Dehydrogenase Deficiency, ACADM u”	ACADM u	この疾患の詳細はこちら
布鲁姆综合征（Bloom综合征）	Bloom Syndrome, BLM u	BLM	この疾患の詳細はこちら
异染性脑白质营养不良（PSAP相关）	Metachromatic Leukodystrophy (PSAP-related) PSAP	PSAP	この疾患の詳細はこちら
肉碱棕榈酰转移酶 II 缺乏症	Carnitine Palmitoyltransferase II Deficiency, CPT2	CPT2	この疾患の詳細はこちら
伴同型半胱氨酸尿症的甲基丙二酸血症 cblC型	Methylmalonic Aciduria and Homocystinuria, Type cblC, MMACHC	MMACHC	この疾患の詳細はこちら
脑腱黄瘤病	Cerebrotendinous Xanthomatosis, CYP27A1	CYP27A1	この疾患の詳細はこちら
小眼球症／无眼球症（VSX2相关）	Microphthalmia/Anophthalmia (VSX2-related), VSX2	VSX2	この疾患の詳細はこちら
慢性肉芽肿病（X连锁）	Chronic Granulomatous Disease, X-Linked, CYBB	CYBB	この疾患の詳細はこちら
线粒体复合体 1 缺乏症（NDUFS6相关）	Mitochondrial Complex 1 Deficiency (NDUFS6-related), NDUFS6	NDUFS6	この疾患の詳細はこちら
合并型丙二酸及甲基丙二酸尿症（ACSF3相关）	Combined Malonic and Methylmalonic Aciduria,	ACSF3	この疾患の詳細はこちら
溶酶体贮积症（粘脂质贮积症 IIIγ型）	Mucolipidosis III Gamma, GNPTG	GNPTG	この疾患の詳細はこちら
粘多糖贮积症 IIIB型（桑菲利波综合征 B型）	“Mucopolysaccharidosis, Type IIIB [Sanfilippo B], NAGLU”	NAGLU	この疾患の詳細はこちら
PROP1相关复合性垂体前叶激素缺乏症 2型	Combined Pituitary Hormone Deficiency 2, PROP1	PROP1	この疾患の詳細はこちら
溶酶体贮积症（粘多糖贮积症 IX型，透明质酸酶缺乏症）	Mucopolysaccharidosis, Type IX, HYAL1	HYAL1	この疾患の詳細はこちら
先天性 N-连接糖基化途径异常症（1C型）	Congenital Disorder of Glycosylation Type 1C, ALG6	ALG6	この疾患の詳細はこちら
神经元蜡样脂质沉积症（CLN6相关）	Neuronal Ceroid Lipofuscinosis (CLN6-related), CLN6	CLN6	この疾患の詳細はこちら
先天性肌无力综合征（CHRNE相关）	“Congenital Myasthenic Syndrome (CHRNE-related), CHRNE”	CHRNE	この疾患の詳細はこちら
酸性鞘脂酶缺乏症（尼曼-匹克病 A/B型）	Niemann-Pick Disease, Types A/B, SMPD1 u	SMPD1	この疾患の詳細はこちら
先天性粒细胞缺乏症（VPS45相关）	Congenital Neutropenia (VPS45-related), VPS45	VPS45	この疾患の詳細はこちら
线粒体病（脑桥小脑发育不全 RARS2相关）	Pontocerebellar Hypoplasia, RARS2-related, RARS2	RARS2	この疾患の詳細はこちら
CRB1相关视网膜营养不良	CRB1-related Retinal Dystrophies, CRB1	CRB1	この疾患の詳細はこちら
纤毛运动障碍综合征（DNAI2相关原发性纤毛运动障碍）	Primary Ciliary Dyskinesia, DNAI2-related, DNAI2	DNAI2	この疾患の詳細はこちら
耳聋，常染色体隐性 77型	Deafness, Autosomal Recessive 77, LOXHD1	LOXHD1	この疾患の詳細はこちら
丙酮酸脱氢酶复合体缺乏症（X连锁，PDHA1相关）	Pyruvate Dehydrogenase Deficiency, X-Linked, PDHA1	PDHA1	この疾患の詳細はこちら
视网膜色素变性 28型	Retinitis Pigmentosa 28, FAM161A	FAM161A	この疾患の詳細はこちら
乙基丙二酸脑病	Ethylmalonic Encephalopathy, ETHE1	ETHE1	この疾患の詳細はこちら
肢根型点状软骨发育不良 III型 (RCDP3)	Rhizomelic Chondrodysplasia Punctata, Type 3, AGPS	AGPS	この疾患の詳細はこちら
凝血因子 V 缺乏症（莱顿五因子易栓症）	Factor V Leiden Thrombophilia, F5	F5	この疾患の詳細はこちら
桑德霍夫病（Sandhoff病）	Sandhoff Disease, HEXB	HEXB	この疾患の詳細はこちら
家族性高胆固醇血症（LDLR相关）	Familial Hypercholesterolemia (LDLR-related), LDLR	LDLR	この疾患の詳細はこちら
酪氨酸血症 1型	Tyrosinemia, Type 1, FAH	FAH	この疾患の詳細はこちら
半乳糖激酶缺乏症（半乳糖血症 II型）	“Galactokinase Deficiency [Galactosemia, Type II], GALK1”	GALK1	この疾患の詳細はこちら
阿셔综合征 2A型（Usher综合征 2A型）	Usher Syndrome, Type 2A, USH2A	USH2A	この疾患の詳細はこちら
戊二酸血症 1型	Glutaric Acidemia, Type 1, GCDH	GCDH	この疾患の詳細はこちら
少年型视网膜劈裂症（X连锁）	Juvenile Retinoschisis, X-Linked, RS1	RS1	この疾患の詳細はこちら
非酮症性高甘氨酸血症（AMT相关）	Glycine Encephalopathy (AMT-related), AMT	AMT	この疾患の詳細はこちら
肢带型肌营养不良 2B型	Limb-Girdle Muscular Dystrophy, Type 2B, DYSF	DYSF	この疾患の詳細はこちら
糖原贮积症 II型（庞贝病 / Pompe病）	“Glycogen Storage Disease, Type 2 [Pompe Disease], GAA”	GAA	この疾患の詳細はこちら
伴皮质下囊肿的巨脑性白质脑病	Megalencephalic Leukoencephalopathy with Subcortical Cysts, MLC1	MLC1	この疾患の詳細はこちら
糖原贮积症 V型（麦阿德尔病 / McArdle病）	“Glycogen Storage Disease, Type 5 [McArdle Disease], PYGM”	PYGM	この疾患の詳細はこちら
线粒体复合体 1 缺乏症（ACAD9相关）	Mitochondrial Complex 1 Deficiency (ACAD9-related), ACAD9	ACAD9	この疾患の詳細はこちら
线粒体肌病伴铁芽球性贫血 1型（MLASA1）	Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1), PUS1	PUS1	この疾患の詳細はこちら
赫曼斯基-普德拉克综合征 1型（HPS1相关）	Hermansky-Pudlak Syndrome (HPS1-related), HPS1	HPS1	この疾患の詳細はこちら
粘脂质贮积症 IV型	Mucolipidosis, Type IV, MCOLN1 u	MCOLN1 u	この疾患の詳細はこちら
同型半胱氨酸尿症（CBS相关）	Homocystinuria (CBS-related), CBS	CBS	この疾患の詳細はこちら
N-乙酰谷氨酸合成酶缺乏症	N-acetylglutamate Synthase Deficiency, NAGS	NAGS	この疾患の詳細はこちら
无汗性外胚层发育不良（X连锁）	Hypohidrotic Ectodermal Dysplasia, X-Linked, EDA	EDA	この疾患の詳細はこちら
尼曼-匹克病 C1/D型（Niemann-Pick病 C1/D型）	Niemann-Pick Disease, Type C1/D, NPC1	NPC1	この疾患の詳細はこちら
克拉伯病（Krabbe病）	Krabbe Disease, GALC	GALC	この疾患の詳細はこちら
非综合征性耳聋（GJB2相关、GJB6相关）	Non-Syndromic Hearing Loss (GJB2-related, GJB6-related), GJB2, GJB6	GJB2、GJB6	この疾患の詳細はこちら
利伯先天性黑蒙 CEP290型	Leber Congenital Amaurosis, Type CEP290, CEP290	CEP290	この疾患の詳細はこちら
肢带型肌营养不良 2C型	Limb-Girdle Muscular Dystrophy, Type 2C, SGCG	SGCG	この疾患の詳細はこちら
原发性高草酸尿症 1型	Primary Hyperoxaluria, Type 1, AGXT	AGXT	この疾患の詳細はこちら
梅克尔-格鲁贝尔综合征 1型（Meckel-Gruber综合征 1型）	Meckel-Gruber Syndrome, Type 1, MKS1	MKS1	この疾患の詳細はこちら
X连锁视网膜色素变性	Retinitis Pigmentosa, X-linked, RPGR	RPGR	この疾患の詳細はこちら
异染性脑白质营养不良（ARSA相关）	Metachromatic Leukodystrophy (ARSA-related), ARSA	ARSA	この疾患の詳細はこちら
罗伯茨综合征（Roberts综合征）	Roberts Syndrome, ESCO2	ESCO2	この疾患の詳細はこちら
甲基丙二酸血症（MMAB相关）	Methylmalonic Aciduria (MMAB-related), MMAB	MMAB	この疾患の詳細はこちら
施姆克免疫性骨发育不良（Schimke免疫骨发育不良）	Schimke Immunoosseous Dysplasia, SMARCAL1	SMARCAL1	この疾患の詳細はこちら
甲基丙二酸血症 MUT0型（MMUT基因）	Methylmalonic Aciduria, Type mut(0), MMUT	MMUT	この疾患の詳細はこちら
史密斯-莱姆利-奥皮茨综合征（Smith-Lemli-Opitz综合征）	Smith-Lemli-Opitz Syndrome, DHCR7 u	DHCR7 u	この疾患の詳細はこちら
线粒体复合体 1 缺乏症（NDUFAF5相关）	Mitochondrial Complex 1 Deficiency (NDUFAF5- related), NDUFAF5	NDUFAF5	この疾患の詳細はこちら
粘脂质贮积症 II/III型（GNPTAB相关）	Mucolipidosis II/III, GNPTAB	GNPTAB	この疾患の詳細はこちら
阿셔综合征 1C型（Usher综合征 1C型）	Usher Syndrome, Type 1C, USH1C	USH1C	この疾患の詳細はこちら
线粒体神经胃肠脑肌病（MNGIE）	“Myoneurogastrointestinal Encephalopathy (MNGIE), TYMP”	TYMP	この疾患の詳細はこちら
齐薇格谱系障碍（PEX6相关）	Zellweger Spectrum Disorders, (PEX6-related), PEX6	PEX6	この疾患の詳細はこちら
齐薇格谱系障碍（PEX10相关）	Zellweger Spectrum Disorders (PEX10-related), PEX10	PEX10	この疾患の詳細はこちら
CLN5 神经元蜡样脂质沉积症	Neuronal Ceroid Lipofuscinosis (CLN5-related), CLN5	CLN5	この疾患の詳細はこちら
神经元蜡样脂质沉积症（PPT1相关）	Neuronal Ceroid Lipofuscinosis (PPT1-related), PPT1	PPT1	この疾患の詳細はこちら
尼曼-匹克病 C2型（NPC2型）	Niemann-Pick Disease, Type C2, NPC2	NPC2	この疾患の詳細はこちら
牙-甲-皮肤发育不良 / 肖普夫-舒尔茨-帕萨奇综合征	“Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz- Passarge Syndrome, WNT10A”	WNT10A	この疾患の詳細はこちら
鸟氨酸氨基甲酰转移酶缺乏症（OTC缺乏症）	Ornithine Transcarbamylase Deficiency, OTC	OTC	この疾患の詳細はこちら

携带者筛查测试 1,200＋可排查的隐性遗传病（1,232 种）

「1,200＋」先进行全外显子组分析，再对下列 1,232 种疾病进行排查。费用为 330,000 日元（含税），出结果需 5～7 周，检测在日本国内进行。

若已有疾病详情页，可从右侧链接查看。详情页正在陆续增加，部分疾病暂无链接。

※ 下表以英文疾病名称记载，可在表框内滚动查看。

疾病英文名	基因	详细信息
Ichthyosis, congenital, autosomal recessive 4A	ABCA12	了解该疾病详情
Ichthyosis, congenital, autosomal recessive 4B (Harlequin ichthyosis)	ABCA12	―
Cholestasis, progressive familial intrahepatic 2	ABCB11	了解该疾病详情
Cholestasis, progressive familial intrahepatic 3	ABCB4	了解该疾病详情
Sitosterolemia 2	ABCG5	了解该疾病详情
Sitosterolemia 1	ABCG8	了解该疾病详情
Acyl-CoA dehydrogenase, medium chain, deficiency	ACADM	了解该疾病详情
Acyl-CoA dehydrogenase, short-chain, deficiency	ACADS	了解该疾病详情
VLCAD deficiency	ACADVL	了解该疾病详情
Alpha-methylacetoacetic aciduria	ACAT1	了解该疾病详情
Adenosine Deaminase Deficiency	ADA	了解该疾病详情
Joubert Syndrome 3	AHI1	了解该疾病详情
Sjogren-Larsson syndrome	ALDH3A2	了解该疾病详情
Fructose intolerance, hereditary	ALDOB	了解该疾病详情
Hypophosphatasia, childhood	ALPL	了解该疾病详情
Hypophosphatasia, infantile	ALPL	了解该疾病详情
Glycine encephalopathy 2	AMT	了解该疾病详情
Metachromatic leukodystrophy	ARSA	了解该疾病详情
Mucopolysaccharidosis type VI (Maroteaux-Lamy)	ARSB	了解该疾病详情
Argininosuccinic aciduria	ASL	了解该疾病详情
Canavan Disease	ASPA	了解该疾病详情
Citrullinemia	ASS1	了解该疾病详情
Wilson Disease	ATP7B	了解该疾病详情
Maple syrup urine disease, type Ia	BCKDHA	了解该疾病详情
Maple syrup urine disease, type Ib	BCKDHB	了解该疾病详情
Biotinidase Deficiency	BTD	了解该疾病详情
Albinism, oculocutaneous, type VII	LRMDA	―
Joubert Syndrome 17	CPLANE1	了解该疾病详情
Muscular dystrophy, limb-girdle, autosomal recessive	CAPN3	了解该疾病详情
Homocystinuria, B6-responsive and nonresponsive	types CBS	了解该疾病详情
Joubert Syndrome 9	CC2D2A	了解该疾病详情
COACH syndrome 2	CC2D2A	―
Joubert Syndrome 5	CEP290	了解该疾病详情
Meckel Syndrome 4	CEP290	了解该疾病详情
Cystic Fibrosis	CFTR	了解该疾病详情
Ceroid lipofuscinosis, neuronal, 3	CLN3	了解该疾病详情
Ceroid lipofuscinosis, neuronal, 5	CLN5	了解该疾病详情
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	CLN6	了解该疾病详情
Ceroid lipofuscinosis, neuronal, 6A	CLN6	了解该疾病详情
Epidermolysis bullosa, junctional 4, intermediate	COL17A1	―
Alport syndrome 3B, autosomal recessive	COL4A3	了解该疾病详情
Alport syndrome 2, autosomal recessive	COL4A4	了解该疾病详情
Epidermolysis bullosa dystrophica, autosomal recessive	COL7A1	了解该疾病详情
Carbamoylphosphate Synthetase I Deficiency	CPS1	了解该疾病详情
Cystinosis, nephropathic	CTNS	了解该疾病详情
Maple syrup urine disease, type II	DBT	了解该疾病详情
Smith-Lemli-Opitz syndrome	DHCR7	了解该疾病详情
Dihydrolipoamide dehydrogenase deficiency	DLD	了解该疾病详情
Duchenne Muscular Dystrophy	DMD	了解该疾病详情
Immunodeficiency-centromeric instability-facial anomaliessyndrome 1	DNMT3B	―
Muscular dystrophy, limb-girdle, autosomal recessive 2	DYSF	了解该疾病详情
Ectodermal dysplasia 1, hypohidrotic, X-linked	EDA	了解该疾病详情
Glutaric acidemia IIA	ETFA	了解该疾病详情
Glutaric acidemia IIB	ETFB	了解该疾病详情
Glutaric acidemia IIC	ETFDH	了解该疾病详情
Ellis-van Creveld Syndrome	EVC2, EVC	―
Hemophilia B	F9	了解该疾病详情
Tyrosinemia, type I	FAH	了解该疾病详情
Fanconi anemia, complementation group A	FANCA	了解该疾病详情
Fanconi anemia, complementation group C	FANCC	了解该疾病详情
Fanconi anemia, complementation group D2	FANCD2	了解该疾病详情
Fanconi anemia, complementation group G	FANCG	了解该疾病详情
Fanconi anemia, complementation group I	FANCI	了解该疾病详情
Glycogen storage disease Ia	G6PC1	了解该疾病详情
Glycogen storage disease II	GAA	了解该疾病详情
Krabbe Disease	GALC	了解该疾病详情
Mucopolysaccharidosis IVA	GALNS	了解该疾病详情
Galactosemia	GALT	了解该疾病详情
Glycogen storage disease IV	GBE1	了解该疾病详情
Glutaricaciduria, type I	GCDH	了解该疾病详情
Deafness, autosomal recessive 1A	GJB2	了解该疾病详情
Fabry Disease	GLA	了解该疾病详情
Mucopolysaccharidosis type IVB (Morquio)	GLB1	了解该疾病详情
Glycine encephalopathy1	GLDC	了解该疾病详情
Mucopolysaccharidosis type IIID	GNS	了解该疾病详情
Ocular albinism, type I, Nettleship-Falls type	GPR143	―
Hyperinsulinemic hypoglycemia, familial, 4	HADH	―
Thalassemia, alpha-	HBA1, HBA2	―
Thalassemia, beta	HBB	了解该疾病详情
Sickle cell disease	HBB	了解该疾病详情
Tay-Sachs Disease	HEXA	了解该疾病详情
Mucopolysaccharidosis type IIIC (Sanfilippo C)	HGSNAT	了解该疾病详情
Holocarboxylase synthetase deficiency	HLCS	了解该疾病详情
HMG-CoA synthase-2 deficiency	HMGCS2	―
Hermansky-Pudlak Syndrome 1	HPS1	了解该疾病详情
Hermansky-Pudlak Syndrome 3	HPS3	了解该疾病详情
Mucopolysaccharidosis II	IDS	了解该疾病详情
Mucopolysaccharidosis Ih/s	IDUA	了解该疾病详情
Mucopolysaccharidosis Is	IDUA	了解该疾病详情
Mucopolysaccharidosis Ih	IDUA	了解该疾病详情
Severe combined immunodeficiency, X-linked	IL2RG	―
Isovaleric Acidemia	IVD	了解该疾病详情
Hyperinsulinemic hypoglycemia, familial, 2	KCNJ11	―
LAMA3-Related Junctional Epidermolysis Bullosa	LAMA3	了解该疾病详情
LAMB3-Related Junctional Epidermolysis Bullosa	LAMB3	了解该疾病详情
LAMC2-Related Junctional Epidermolysis Bullosa	LAMC2	了解该疾病详情
Osteoporosis-pseudoglioma syndrome	LRP5	―
Mannosidosis, alpha-, types I and II	MAN2B1	了解该疾病详情
3-Methylcrotonyl-CoA carboxylase 1 deficiency	MCCC1	了解该疾病详情
3-Methylcrotonyl-CoA carboxylase 2 deficiency	MCCC2	了解该疾病详情
Methylmalonyl-CoA epimerase deficiency	MCEE	―
Ceroid lipofuscinosis, neuronal, 7	MFSD8	了解该疾病详情
Megalencephalic Leukoencephalopathy with Subcortical Cysts 1	MLC1	了解该疾病详情
Methylmalonic aciduria, vitamin B12-responsive, type cblA	MMAA	了解该疾病详情
Methylmalonic aciduria, vitamin B12-responsive, type cblB	MMAB	了解该疾病详情
Methylmalonic aciduria and homocystinuria, type cblC	MMACHC	―
Methylmalonic aciduria and homocystinuria, type cblD	MMADHC	―
Molybdenum Cofactor Deficiency A	MOCS1	―
Myopathy, centronuclear, X-linked	MTM1	了解该疾病详情
Homocystinuria-megaloblastic anemia, cblG complementationtype	MTR	了解该疾病详情
Homocystinuria-megaloblastic anemia, cbl E type	MTRR	了解该疾病详情
Methylmalonic aciduria, mut(0) type	MMUT	了解该疾病详情
Mucopolysaccharidosis type IIIB (Sanfilippo B)	NAGLU	了解该疾病详情
Niemann-Pick disease, type C1	NPC1	了解该疾病详情
Niemann-pick disease, type C2	NPC2	了解该疾病详情
Nephronophthisis 3	NPHP3	了解该疾病详情
Nephrotic syndrome, type 1	NPHS1	了解该疾病详情
Adrenal hypoplasia, congenital	NR0B1	―
Albinism, oculocutaneous, type II	OCA2	了解该疾病详情
Ornithine Transcarbamylase Deficiency	OTC	了解该疾病详情
Phenylketonuria	PAH	了解该疾病详情
Propionicacidemia	PCCA, PCCB	―
Peroxisome biogenesis disorder 1A (Zellweger)	PEX1	了解该疾病详情
Congenital disorder of glycosylation, type Ia	PMM2	了解该疾病详情
Ceroid lipofuscinosis, neuronal, 1	PPT1	了解该疾病详情
Hemophagocytic lymphohistiocytosis, familial, 2	PRF1	了解该疾病详情
Hyperphenylalaninemia, BH4-deficient, A	PTS	了解该疾病详情
Omenn syndrome	RAG1, RAG2	了解该疾病详情
Severe combined immunodeficiency, B cell-negative	RAG1, RAG2	了解该疾病详情
Muscular dystrophy, limb-girdle, autosomal recessive 3	SGCA	了解该疾病详情
Muscular dystrophy, limb-girdle, autosomal recessive	SGCG	了解该疾病详情
Mucopolysaccharidosis type IIIA (Sanfilippo A)	SGSH	了解该疾病详情
Carnitine deficiency, systemic primary	SLC22A5	了解该疾病详情
Albinism, oculocutaneous, type VI	SLC24A5	―
Hyperornithinemia-hyperammonemia-homocitrullinemiasyndrome	SLC25A15	了解该疾病详情
Deafness, autosomal recessive 4, with enlarged vestibularaqueduct	SLC26A4	了解该疾病详情
Glycogen storage disease Ib	SLC37A4	了解该疾病详情
Glycogen storage disease Ic	SLC37A4	了解该疾病详情
Albinism, oculocutaneous, type IV	SLC45A2	了解该疾病详情
Niemann-Pick disease, type A	SMPD1	了解该疾病详情
Niemann-Pick disease, type B	SMPD1	了解该疾病详情
Netherton syndrome	SPINK5	―
Hemophagocytic lymphohistiocytosis, familial, 4	STX11	了解该疾病详情
Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease	STXBP2	了解该疾病详情
Osteopetrosis, autosomal recessive 1	TCIRG1	了解该疾病详情
Ichthyosis, congenital, autosomal recessive 1	TGM1	了解该疾病详情
Cholestasis, progressive familial intrahepatic 4	TJP2	―
Joubert Syndrome 2	TMEM216	了解该疾病详情
Meckel Syndrome 2	TMEM216	了解该疾病详情
Joubert Syndrome 6	TMEM67	了解该疾病详情
Meckel Syndrome 3	TMEM67	了解该疾病详情
COACH syndrome 1	TMEM67	了解该疾病详情
Nephronophthisis 11	TMEM67	了解该疾病详情
Ceroid lipofuscinosis, neuronal, 2	TPP1	了解该疾病详情
Oculocutaneous Albinism Type 1	TYR	了解该疾病详情
Albinism, oculocutaneous, type III	TYRP1	了解该疾病详情
Hemophagocytic lymphohistiocytosis, familial, 3	UNC13D	了解该疾病详情
Wolfram Syndrome 1	WFS1	―
Spinal Muscular Atrophy	SMN1	了解该疾病详情
Aspartylglucosaminuria	AGA	了解该疾病详情
Polycystic kidney disease 4, with or without hepatic disease	PKHD1	了解该疾病详情
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay	SACS	了解该疾病详情
Bloom syndrome	BLM	了解该疾病详情
Combined pituitary hormone deficiency 2	PROP1	了解该疾病详情
Dysautonomia, familial	ELP1	了解该疾病详情
GRACILE Syndrome	BCS1L	了解该疾病详情
Hereditary Motor and Sensory Neuropathy with AgenesisCorpus Callosum	SLC12A6	了解该疾病详情
Usher Syndrome Type 1F	PCDH15	了解该疾病详情
Usher Syndrome Type 3A	CLRN1	了解该疾病详情
Argininemia	ARG1	―
LCHAD deficiency	HADHA	了解该疾病详情
Mitochondrial trifunctional protein deficiency 1	HADHA	了解该疾病详情
Mitochondrial trifunctional protein deficiency 2	HADHB	了解该疾病详情
Ataxia-telangiectasia	ATM	了解该疾病详情
Hemolytic anemia, G6PD deficient (favism)	G6PD	了解该疾病详情
Galactokinase deficiency with cataracts	GALK1	了解该疾病详情
Mucolipidosis IV	MCOLN1	了解该疾病详情
Familial Mediterranean fever, AR	MEFV	了解该疾病详情
Nemaline myopathy 2, autosomal recessive	NEB	了解该疾病详情
Alpha- 1 antitrypsin deficiency	SERPINA1	了解该疾病详情
Gitelman syndrome	SLC12A3	了解该疾病详情
Spastic paraplegia 11, autosomal recessive	SPG11	―
Segawa syndrome, recessive	TH	了解该疾病详情
Laron dwarfism	GHR	―
Congenital Adrenal Hyperplasia due to11-beta-Hydroxylase-Deficiency	CYP11B1	―
Congenital Adrenal Hyperplasia due to 17-alpha HydroxylaseDeficiency	CYP17A1	―
2,4-Dienoyl-CoA Reductase Deficiency	NADK2	―
2-Methylbutyryl Glycinuria	ACADSB	―
3MC Syndrome 1	MASP1	―
3MC Syndrome 2	COLEC11	―
3-M Syndrome 2	OBSL1	―
3-beta-Hydroxysteroid Dehydrogenase Deficiency	HSD3B2	―
3-Methylglutaconic Aciduria type 1	AUH	了解该疾病详情
3-Methylglutaconic Aciduria type 3	OPA3	了解该疾病详情
3-Methylglutaconic Aciduria type 5	DNAJC19	―
3-Methylglutaconic Aciduria type 8	HTRA2	―
3-Methylglutaconic Aciduria With Cataracts, NeurologicInvolvement,And Neutropenia	CLPB	了解该疾病详情
3-Methylglutaconic aciduria with deafness, encephalopathy,Leigh-like syndrome	SERAC1	―
3-hydroxy-3-methylglutaryl-CoA lyase deficiency	HMGCL	了解该疾病详情
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	HIBCH	―
Pyridoxal 5'-Phosphate-dependent Epilepsy	PNPO	―
GM2-gangliosidosis, AB variant	GM2A	―
Adams-Oliver Syndrome 2	DOCK6	―
Adams-Oliver Syndrome 4	EOGT	―
Aicardi-Goutieres Syndrome 1	TREX1	了解该疾病详情
Aicardi-Goutieres Syndrome 2	RNASEH2B	了解该疾病详情
Aicardi-Goutieres Syndrome 3	RNASEH2C	了解该疾病详情
Aicardi-Goutieres Syndrome 4	RNASEH2A	了解该疾病详情
Aicardi-Goutieres Syndrome 5	SAMHD1	了解该疾病详情
Aicardi-Goutieres Syndrome 6	ADAR	了解该疾病详情
Al Kaissi syndrome	CDK10	―
Alazami Syndrome	LARP7	―
Alkuraya-Kucinskas Syndrome	BLTP1	―
Allan-Herndon-Dudley syndrome	SLC16A2	―
Alstrom Syndrome	ALMS1	了解该疾病详情
Anauxetic dysplasia 2	POP1	―
Antley-Bixler Syndrome With Genital Anomalies And DisorderedSteroidogenesis	POR	―
Arts Syndrome	PRPS1	―
Athabaskan Brain Stem Dysgenesis Syndrome	HOXA1	―
Baller-Gerold Syndrome	RECQL4	―
Bardet-Biedl syndrome 10	BBS10	了解该疾病详情
Bardet-Biedl syndrome 12	BBS12	了解该疾病详情
Bardet-Biedl syndrome 16	SDCCAG8	了解该疾病详情
Bardet-Biedl syndrome 17	LZTFL1	了解该疾病详情
Bardet-Biedl syndrome 1	BBS1	了解该疾病详情
Bardet-Biedl syndrome 2	BBS2	了解该疾病详情
Bardet-Biedl syndrome 3	ARL6	了解该疾病详情
Bardet-Biedl syndrome 4	BBS4	了解该疾病详情
Bardet-Biedl syndrome 5	BBS5	了解该疾病详情
Bardet-Biedl syndrome 7	BBS7	了解该疾病详情
Bardet-Biedl syndrome 8	TTC8	了解该疾病详情
Bardet-Biedl syndrome 9	BBS9	了解该疾病详情
Barth syndrome	TAFAZZIN	了解该疾病详情
Bartter Syndrome 1	SLC12A1	了解该疾病详情
Bartter Syndrome 2	KCNJ1	―
Basel-Vanagait-Smirin-Yosef syndrome	MED25	―
BEHR syndrome	OPA1	―
BH4-Deficient Hyperphenylalaninemia C	QDPR	―
Chondrodysplasia, Blomstrand Type	PTH1R	―
Borjeson-Forssman-Lehmann syndrome	PHF6	―
Boucher-Neuhauser syndrome	PNPLA6	―
Brachyolmia Type 4	PAPSS2	―
Brown-Vialetto-Van Laere syndrome 1	SLC52A3	―
Brown-Vialetto-Van Laere syndrome 2	SLC52A2	―
Bruck Syndrome 1	FKBP10	―
Bruck Syndrome 2	PLOD2	―
Brunner syndrome	MAOA	―
Burn-Mckeown Syndrome	TXNL4A	―
Carey-Fineman-Ziter syndrome	MYMK	―
Carpenter syndrome 1	RAB23	了解该疾病详情
Carpenter Syndrome 2	MEGF8	了解该疾病详情
Cerebellar Ataxia, Cayman Type	ATCAY	―
Cenani-Lenz Syndactyly Syndrome	LRP4	―
Chanarin-Dorfman syndrome	ABHD5	―
Charcot-Marie-Tooth disease, Axonal, Type 2A2B	MFN2	―
Charcot-Marie-Tooth disease type 3	PRX	―
Charcot-Marie-Tooth disease type 4B1	MTMR2	―
Charcot-Marie-Tooth disease type 4C	SH3TC2	―
Charcot-Marie-Tooth disease type 4D	NDRG1	―
Chediak-Higashi Syndrome	LYST	―
X-Linked Syndromic Mental Retardation, Christianson	SLC9A6	―
Chudley-McCullough Syndrome	GPSM2	―
X-Linked Syndromic Mental Retardation, Claes-Jensen type	KDM5C	―
Cockayne Syndrome A	ERCC8	―
Cockayne Syndrome B	ERCC6	―
CODAS Syndrome	LONP1	―
Coffin-Lowry Syndrome	RPS6KA3	―
Cohen Syndrome	VPS13B	―
Crigler-Najjar syndrome type 1	UGT1A1	了解该疾病详情
D,L-2-hydroxyglutaric aciduria	SLC25A1	―
D-2-hydroxyglutaric aciduria 1	D2HGDH	―
DCLRE1C-Related Severe Combined Immunodeficiency	DCLRE1C	了解该疾病详情
Desbuquois Dysplasia 1	CANT1	―
Desbuquois Dysplasia 2	XYLT1	―
Donnai-Barrow syndrome	LRP2	―
Dyggve-Melchior-Clausen Disease	DYM	―
D-Glyceric Aciduria	GLYCTK	―
Ehlers-Danlos Syndrome type VI	PLOD1	―
Ehlers-Danlos syndrome type VIIC	ADAMTS2	了解该疾病详情
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis,Myopathy, and Hearing Loss	FKBP14	―
Elsahy-Waters syndrome	CDH11	―
MULTIPLE PTERYGIUM SYNDROME, ESCOBAR	VARIANT CHRNG	―
Fanconi-Bickel Syndrome	SLC2A2	―
Farber Lipogranulomatosis	ASAH1	―
FG Syndrome Type 2	FLNA	―
FG Syndrome Type 4	CASK	―
Filippi Syndrome	CKAP2L	―
Frank-ter Haar Syndrome	SH3PXD2B	―
Fraser Syndrome 1	FRAS1	―
Fraser syndrome 2	FREM2	―
Fraser syndrome 3	GRIP1	―
X-linked Mental retardation, FRAXE type	AFF2	了解该疾病详情
GABA-Transaminase Deficiency	ABAT	―
Galloway-Mowat Syndrome 1	WDR73	―
Galloway-Mowat syndrome 3	OSGEP	―
Geleophysic dysplasia 1	ADAMTSL2	了解该疾病详情
Spondyloepimetaphyseal Dysplasia, Genevieve Type	NANS	―
Goldberg-Shprintzen syndrome	KIFBP	―
Greenberg dysplasia	LBR	―
Griscelli Syndrome 2	RAB27A	―
Dopa-Responsive Dystonia	GCH1	了解该疾病详情
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	CCBE1	―
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	FAT4	―
Hermansky-Pudlak Syndrome 4	HPS4	了解该疾病详情
Hermansky-Pudlak Syndrome 5	HPS5	了解该疾病详情
Hermansky-Pudlak Syndrome 6	HPS6	了解该疾病详情
X-linked immunodysregulation, polyendocrinopathy, andenteropathy	FOXP3	―
Jalili Syndrome	CNNM4	―
Jervell and Lange-Nielsen syndrome 1	KCNQ1	―
Jervell and Lange-Nielsen syndrome 2	KCNE1	―
Johanson-Blizzard Syndrome	UBR1	―
Joubert Syndrome 10	OFD1	了解该疾病详情
Joubert Syndrome 14	TMEM237	了解该疾病详情
Joubert Syndrome 15	CEP41	了解该疾病详情
Joubert Syndrome 16	TMEM138	了解该疾病详情
Joubert Syndrome 18	TCTN3	了解该疾病详情
Joubert Syndrome 1	INPP5E	了解该疾病详情
Joubert Syndrome 20	TMEM231	了解该疾病详情
Joubert Syndrome 21	CSPP1	了解该疾病详情
Joubert Syndrome 24	TCTN2	了解该疾病详情
Joubert Syndrome 4	NPHP1	了解该疾病详情
Joubert Syndrome 8	ARL13B	了解该疾病详情
Kenny-Caffey Syndrome Type 1	TBCE	―
Keutel Syndrome	MGP	―
Kindler Syndrome	FERMT1	―
Knobloch Syndrome Type I	COL18A1	―
Kohlschutter-Tonz Syndrome	ROGDI	―
L-2-hydroxyglutaric aciduria	L2HGDH	―
Lafora Disease	EPM2A	―
Leber Congenital Amaurosis 12	RD3	了解该疾病详情
Leber Congenital Amaurosis 13	RDH12	了解该疾病详情
Leber congenital amaurosis 14	LRAT	了解该疾病详情
Leber Congenital Amaurosis 1	GUCY2D	了解该疾病详情
Leber Congenital Amaurosis 2	RPE65	了解该疾病详情
Leber Congenital Amaurosis 3	SPATA7	了解该疾病详情
Leber Congenital Amaurosis 5	LCA5	了解该疾病详情
Leber Congenital Amaurosis 8	CRB1	了解该疾病详情
Leber Congenital Amaurosis 9	NMNAT1	了解该疾病详情
Lesch-Nyhan Syndrome	HPRT1	―
LIG4 syndrome	LIG4	―
Lowe Syndrome	OCRL	―
Lujan-Fryns syndrome	MED12	―
Majeed Syndrome	LPIN2	―
Marinesco-Sjogren Syndrome	SIL1	―
MASA syndrome	L1CAM	―
McKusick-Kaufman Syndrome	MKKS	―
Meckel syndrome 1	MKS1	了解该疾病详情
Meckel syndrome 5	RPGRIP1L	了解该疾病详情
Neonatal Severe Encephalopathy Due To MECP2 Mutations	MECP2	了解该疾病详情
Meester-Loeys syndrome	BGN	―
Congenital Muscular Dystrophy, Megaconial type	CHKB	―
MEHMO syndrome	EIF2S3	―
Meier-Gorlin Syndrome 1	ORC1	了解该疾病详情
Meier-Gorlin Syndrome 3	ORC6	了解该疾病详情
Meier-Gorlin Syndrome 4	CDT1	了解该疾病详情
Meier-Gorlin syndrome 7	CDC45	了解该疾病详情
Menkes Disease	ATP7A	―
Merosin-deficient congenital muscular dystrophy type 1A	LAMA2	―
Miller syndrome	DHODH	―
Mitchell-Riley syndrome	RFX6	―
Mohr-Tranebjaerg syndrome	TIMM8A	―
Recurrent Pyogenic Bacterial Infections due to MYD88Deficiency	MYD88	―
X-Linked Syndromic Mental Retardation, Nascimento-type	UBE2A	―
Naxos Disease	JUP	―
Neu-Laxova Syndrome 1	PHGDH	了解该疾病详情
Neu-Laxova Syndrome 2	PSAT1	―
Norrie Disease	NDP	―
N-acetylglutamate synthase deficiency	NAGS	了解该疾病详情
Ogden Syndrome	NAA10	―
Spondyloepiphyseal Dysplasia, Omani type	CHST3	―
Opitz Gbbb Syndrome, Type I	MID1	―
Opsismodysplasia	INPPL1	―
PEHO syndrome	ZNHIT3	―
Perlman Syndrome	DIS3L2	―
Perrault Syndrome 3	CLPP	―
Perrault Syndrome 4	LARS2	―
Peters Plus Syndrome	B3GLCT	―
Pierson Syndrome	LAMB2	了解该疾病详情
Pitt-Hopkins like syndrome 1	CNTNAP2	―
Poretti-Boltshauser syndrome	LAMA1	―
Raine Syndrome	FAM20C	―
X-Linked Syndromic Mental Retardation, Raymond type	ZDHHC9	―
Renpenning syndrome	PQBP1	―
Sandhoff Disease	HEXB	了解该疾病详情
Metachromatic leukodystrophy due to Saposin B deficiency	PSAP	―
Schimke Immunoosseous Dysplasia	SMARCAL1	了解该疾病详情
Schneckenbecken Dysplasia	SLC35D1	―
Schwartz-Jampel Syndrome, Type 1	HSPG2	―
Stüve-Wiedemann Syndrome	LIFR	了解该疾病详情
SC Phocomelia Syndrome	ESCO2	了解该疾病详情
Seckel Syndrome Type 1	ATR	了解该疾病详情
Seckel Syndrome Type 2	RBBP8	了解该疾病详情
Seckel Syndrome Type 5	CEP152	了解该疾病详情
Sengers syndrome	AGK	―
Senior-Loken Syndrome 4	NPHP4	了解该疾病详情
Senior-Loken syndrome 5	IQCB1	了解该疾病详情
Senior-Loken Syndrome 8	WDR19	了解该疾病详情
Shwachman-Diamond Syndrome	SBDS	―
X-linked Mental retardation syndrome, Siderius type	PHF8	―
Simpson-Golabi-Behmel Syndrome Type 1	GPC3	―
Smith-McCort Dysplasia 2	RAB33B	―
Snyder-Robinson mental retardation syndrome	SMS	―
Steel Syndrome	COL27A1	―
TARP Syndrome	RBM10	―
Temtamy Preaxial Brachydactyly Syndrome	CHSY1	―
Temtamy Syndrome	C12orf57	―
Tenascin-X deficiency type Ehlers-Danlos syndrome	TNXB	―
Ullrich congenital muscular dystrophy 1	COL6A1, COL6A2, COL6A3	―
Usher Syndrome Type 1B	MYO7A	―
Usher Syndrome Type 1C	USH1C	了解该疾病详情
Usher syndrome, type 1D	CDH23	了解该疾病详情
Usher Syndrome Type 1G	USH1G	―
Deafness, Autosomal Recessive	CIB2	―
Usher Syndrome Type 2A	USH2A	了解该疾病详情
Usher Syndrome Type 2D	WHRN	―
Van Den Ende-Gupta Syndrome	SCARF2	―
Van Maldergem Syndrome 1	DCHS1	―
Vici Syndrome	EPG5	―
Factor VII Deficiency	F7	了解该疾病详情
Factor V deficiency	F5	了解该疾病详情
Warburg Micro Syndrome 1	RAB3GAP1	―
Warburg Micro Syndrome 2	RAB3GAP2	―
Warburg Micro Syndrome 3	RAB18	―
Wieacker-Wolff Syndrome	ZC4H2	―
Wiskott-Aldrich Syndrome 1	WAS	―
Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus	EIF2AK3	―
Wolfram Syndrome 2	CISD2	―
Woodhouse-Sakati syndrome	DCAF17	―
Alport syndrome 1, X-linked	COL4A5	了解该疾病详情
X-linked Charcot-Marie-Tooth disease 4	AIFM1	―
X-linked Emery-Dreifuss Muscular Dystrophy 1	EMD	了解该疾病详情
X-Linked Properdin Deficiency	CFP	―
X-Linked Hypophosphatemia	PHEX	―
X-linked retinitis pigmentosa：XLRP	RPGR	了解该疾病详情
X-Linked Myopathy with Excessive Autophagy	VMA21	―
X-Linked Lymphoproliferative syndrome 1	SH2D1A	―
X-Linked Lymphoproliferative syndrome 2	XIAP	―
X-linked Chronic Granulomatous Disease	CYBB	了解该疾病详情
X-Linked Juvenile Retinoschisis	RS1	了解该疾病详情
X-Linked Adrenoleukodystrophy	ABCD1	了解该疾病详情
Myopathy, X-linked, with postural muscle atrophy	FHL1	了解该疾病详情
X-linked sideroblastic anemia and ataxia	ABCB7	―
X-linked Pigmentary disorder, reticulate, with systemicmanifestations	POLA1	―
X-linked Lissencephaly 1	DCX	―
X-linked Lissencephaly 2	ARX	了解该疾病详情
X-Linked Dyskeratosis Congenita	DKC1	―
Spinal muscular atrophy, X-linked 2, infantile	UBA1	―
autism spectrum disorder　X-Linked	NLGN4X	―
X-Linked Mental Retardation 12	THOC2	了解该疾病详情
X-Linked Mental Retardation 1	IQSEC2	了解该疾病详情
X-Linked Mental Retardation 21	IL1RAPL1	了解该疾病详情
X-Linked Mental Retardation 30	PAK3	了解该疾病详情
X-Linked Mental Retardation 41/48	GDI1	―
X-Linked Mental Retardation 49	CLCN4	了解该疾病详情
X-Linked Mental Retardation 41	TSPAN7	了解该疾病详情
X-Linked Mental Retardation 61	RLIM	了解该疾病详情
X-Linked Mental Retardation 72	RAB39B	了解该疾病详情
X-Linked Mental Retardation 90	DLG3	了解该疾病详情
X-Linked Mental Retardation 93	BRWD3	了解该疾病详情
X-Linked Mental Retardation 96	SYP	了解该疾病详情
X-Linked Mental Retardation 97	ZNF711	了解该疾病详情
X-Linked Mental Retardation 98	NEXMIF	了解该疾病详情
X-Linked Mental Retardation 99	USP9X	了解该疾病详情
X-Linked Mental Retardation 9	FTSJ1	了解该疾病详情
X-Linked Mental Retardation with Cerebellar HypoplasiaDistinctive Facial Appearance	OPHN1	―
X-linked α-thalassemia/ Mental Retardation Syndrome	ATRX	―
X-Linked Syndromic Mental Retardation 14	UPF3B	―
X-Linked Syndromic Mental Retardation 15	CUL4B	―
X-Linked Syndromic Mental Retardation 35	RPL10	―
X-Linked Syndromic Mental Retardation 5	AP1S2	―
You-Hoover-Fong syndrome	TELO2	―
Yunis-Varon Syndrome	FIG4	―
Alpha-N-acetylgalactosaminidase deficiency	NAGA	了解该疾病详情
Beta-Mannosidosis	MANBA	了解该疾病详情
Beta-Ureidopropionase Deficiency	UPB1	―
Prolidase deficiency	PEPD	―
Interleukin 1 Receptor Antagonist Deficiency	IL1RN	―
Cataracts, Growth Hormone Deficiency, SensoryNeuropathy,sensorineural hearing loss, and skeletal dysplasia	IARS2	―
Cataract 18	FYCO1	―
Cataract 40, Nance-Horan syndrome	NHS	―
Leukocyte Adhesion Deficiency type 1	ITGB2	―
Leukocyte Adhesion Deficiency type 3	FERMT3	―
Galactosialidosis	CTSA	了解该疾病详情
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	TSPYL1	―
Spondyloepimetaphyseal Dysplasia With Joint Laxity, TypeWith Or Without Fractures	B3GALT6	―
Bowen-Conradi Syndrome	EMG1	―
Bifid Nose With Or Without Anorectal And Renal Anomalies	FREM1	―
Pyridoxine-Refractory Sideroblastic Anemia	SLC25A38	―
Pyridoxine-Dependent Epilepsy	ALDH7A1	―
Epidermolytic ichthyosis	KRT10	―
Epidermolytic Hyperkeratosis 2B, Autosomal Recessive	KRT10	―
Malonyl-Coa Decarboxylase Deficiency	MLYCD	―
Pyruvate kinase deficiency	PKLR	了解该疾病详情
Pyruvate Carboxylase Deficiency	PC	了解该疾病详情
Pyruvate dehydrogenase E1-alpha deficiency	PDHA1	了解该疾病详情
Pyruvate Dehydrogenase E1-Beta Deficiency	PDHB	了解该疾病详情
Pyruvate Dehydrogenase Phosphatase Deficiency	PDP1	―
Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency	LIAS	―
C1q deficiency	C1QA, C1QB, C1QC	―
Complement hyperactivation, angiopathic thrombosis, andprotein-losing enteropathy	CD55	―
Complement Factor I Deficiency	CFI	―
Epimerase Deficiency Galactosemia	GALE	―
Hypomagnesemia 1, intestinal	TRPM6	―
Common Variable Immune Deficiency 1	ICOS	―
Common Variable Immune Deficiency 2	TNFRSF13B	―
Common Variable Immune Deficiency 8 with Autoimmunity	LRBA	―
Autosomal Spastic paraplegia 30	KIF1A	―
Autosomal Dyskeratosis Congenita 5/4	RTEL1	―
Autosomal Recessive Robinow Syndrome	ROR2	―
Autosomal Recessive T Cell-Negative、B Cell-Positive、NKCell-Negative Severe Combined Immunodeficiency	JAK3	―
Autosomal Recessive Persistent Hyperplastic Primary	ATOH7	―
Autosomal Recessive Epidermolysis Bullosa Simplex	KRT14, KRT5	―
Autosomal recessive Thrombophilia due to protein C	PROC	―
Autosomal recessive Thrombophilia due to protein S	PROS1	―
Autosomal Recessive Deafness 3	MYO15A	―
Autosomal Recessive Deafness 7	TMC1	了解该疾病详情
Autosomal Recessive Deafness 8/10	TMPRSS3	―
Autosomal Recessive Deafness 9	OTOF	了解该疾病详情
Autosomal Recessive Osteopetrosis 2	TNFSF11	了解该疾病详情
Autosomal Recessive Osteopetrosis 3	CA2	了解该疾病详情
Autosomal Recessive Osteopetrosis 4	CLCN7	了解该疾病详情
Autosomal Recessive Osteopetrosis 5	OSTM1	了解该疾病详情
Autosomal Recessive Osteopetrosis 7	TNFRSF11A	了解该疾病详情
Autosomal Recessive Spinocerebellar Ataxia 10	ANO10	了解该疾病详情
Autosomal Recessive Spinocerebellar Ataxia 13	GRM1	了解该疾病详情
Autosomal Recessive Spinocerebellar Ataxia 16	STUB1	了解该疾病详情
Autosomal Recessive Spinocerebellar Ataxia	1 SETX	了解该疾病详情
Autosomal Recessive Spinocerebellar ataxia 20	SNX14	了解该疾病详情
Autosomal Recessive Spinocerebellar ataxia 21	SCYL1	了解该疾病详情
Autosomal Recessive Spinocerebellar Ataxia	PMPCA	了解该疾病详情
Autosomal Recessive Spastic paraplegia 15	ZFYVE26	了解该疾病详情
Autosomal Recessive Spastic paraplegia 23	DSTYK	了解该疾病详情
Autosomal Recessive Spastic paraplegia 26	B4GALNT1	了解该疾病详情
Autosomal Recessive Spastic paraplegia 35	FA2H	了解该疾病详情
Autosomal Recessive Spastic paraplegia 45	NT5C2	了解该疾病详情
Autosomal Recessive Spastic paraplegia 46	GBA2	了解该疾病详情
Autosomal Recessive Spastic paraplegia 47	AP4B1	了解该疾病详情
Autosomal Recessive Spastic paraplegia 50	AP4M1	了解该疾病详情
Autosomal Recessive Spastic paraplegia 52	AP4S1	了解该疾病详情
Autosomal Recessive Spastic paraplegia 53	VPS37A	了解该疾病详情
Autosomal Recessive Spastic paraplegia 54	DDHD2	了解该疾病详情
Autosomal Recessive Spastic paraplegia 56	CYP2U1	了解该疾病详情
Autosomal Recessive Spastic Paraplegia 9B	ALDH18A1	了解该疾病详情
Autosomal Recessive Cutis Laxa type 1A	FBLN5	―
Autosomal Recessive Cutis Laxa type 1B	EFEMP2	―
Autosomal Recessive Cutis Laxa type 1C	LTBP4	―
Autosomal Recessive Cutis Laxa type 2A	ATP6V0A2	―
Autosomal Recessive Cutis Laxa type 2B	PYCR1	―
Autosomal Recessive Cytochrome B-Positive ChronicGranulomatous Disease Type II	NCF2	了解该疾病详情
Autosomal Recessive Cytochrome B-Negative ChronicGranulomatous Disease	CYBA	了解该疾病详情
Autosomal Recessive Myotonia Congenita	CLCN1	―
Autosomal Recessive Dyskeratosis Congenita	WRAP53	―
Autosomal Recessive Microcephaly And Chorioretinopathy	TUBGCP6	―
Autosomal Recessive Microcephaly And Chorioretinopathy	TUBGCP4	―
Autosomal Recessive Spastic Ataxia 8 with HypomyelinatingLeukodystrophy	NKX6-2	―
Autosomal Recessive Congenital Ichthyosis 5	CYP4F22	了解该疾病详情
Autosomal Recessive Congenital Ichthyosis 6	NIPAL4	了解该疾病详情
Autosomal Recessive Congenital Ichthyosis 9	CERS3	了解该疾病详情
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive,1	HPGD	―
Intellectual developmental disorder, autosomal recessive 18	MED23	―
Intellectual developmental disorder, autosomal recessive 27	LINS1	―
Intellectual developmental disorder, autosomal recessive 38	HERC2	―
Intellectual developmental disorder, autosomal recessive 57	MBOAT7	―
Autosomal Recessive Mental Retardation 13	TRAPPC9	了解该疾病详情
Autosomal Recessive Mental Retardation 15	MAN1B1	了解该疾病详情
Autosomal Recessive Mental Retardation 36	ADAT3	了解该疾病详情
Autosomal Recessive Mental Retardation 39	TTI2	了解该疾病详情
Autosomal Recessive Mental Retardation	3 CC2D1A	―
Autosomal Recessive Mental Retardation 41	KPTN	了解该疾病详情
Autosomal Recessive Mental Retardation 42	PGAP1	了解该疾病详情
Autosomal Recessive Mental Retardation 44	METTL23	了解该疾病详情
Autosomal Recessive Mental Retardation 49	GPT2	了解该疾病详情
Autosomal Recessive Mental Retardation 58	ELP2	了解该疾病详情
Autosomal Recessive Mental Retardation	5 NSUN2	―
Autosomal Recessive Mental Retardation	7 TUSC3	―
Osteogenesis Imperfecta type XV	WNT1	了解该疾病详情
Osteogenesis Imperfecta type VI	SERPINF1	了解该疾病详情
Osteogenesis Imperfecta type VIII	P3H1	了解该疾病详情
Osteogenesis imperfecta, type X	SERPINH1	了解该疾病详情
Achalasia-Addisonianism-Alacrima Syndrome	AAAS	―
Postnatal Progressive Microcephaly With Seizures And Brain Atrophy	MED17	―
Hemorrhagic Destruction of the Brain, SubependymalCalcification and Cataracts	JAM3	―
Adrenocorticotropic hormone Deficiency	TBX19	―
Neurodegeneration due to Cerebral Folate Transport Deficiency	FOLR1	―
Epidermolysis Bullosa with Pyloric Atresia	ITGB4, ITGA6	―
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis(MACSsyndrome)	RIN2	―
Band-Like Calcification with Simplified GyrationPolymicrogyria	OCLN	―
Band heterotopia	EML1	―
Multiple joint dislocations, short stature, craniofacialdysmorphism, and congenital heart defects	B3GAT3	―
Leukodystrophy, hypomyelinating, 2	GJC2	了解该疾病详情
HSD10 mitochondrial disease	HSD17B10	―
D-bifunctional protein deficiency	HSD17B4	了解该疾病详情
Autosomal Recessive Distal Spinal Muscular Atrophy 1	IGHMBP2	―
Donohue Syndrome	INSR	―
Gillespie syndrome, Autosomal recessive	ITPR1	―
PERCHING syndrome	KLHL7	―
Familial Lecithin cholesterol acyltransferase deficiency	LCAT	―
Lysosomal acid lipase deficiency	LIPA	了解该疾病详情
Congenital Hydrocephalus 2 with or without brain or eyeanomalies	MPDZ	―
Hypertrophic Neuropathy of Dejerine Sottas	MPZ	―
Cleft lip/palate-ectodermal dysplasia syndrome	NECTIN1	―
myoclonic epilepsy of Lafora	NHLRC1	―
Insensitivity to pain, congenital, with anhidrosis	NTRK1	了解该疾病详情
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome	PIGL	―
Plasminogen deficiency, type I	PLG	―
Microcephaly, seizures, and developmental delay	PNKP	―
OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCYAND RED HAIR	POMC	―
Thiamine metabolism dysfunction syndrome 2 (biotin- orthiamine-responsive encephalopathy type 2)	SLC19A3	―
Autosomal Recessive Spastic paraplegia 20	SPART	了解该疾病详情
Salt and pepper developmental regression syndrome, Autosomalrecessive	ST3GAL5	―
Gastrointestinal defects and immunodeficiency syndrome	TTC7A	―
Kaufman oculocerebrofacial syndrome	UBE3B	―
Epidermolysis bullosa simplex with pyloric atresia	PLEC	―
Isolated Microphthalmia 8	ALDH1A3	―
Monocarboxylate Transporter 1 Deficiency	SLC16A1	―
Proteasome-Associated Autoinflammatory Syndrome 1	PSMB8	―
Hypogonadotropic hypogonadism 1 with or without anosmia(Kallmann syndrome 1)	ANOS1	―
Hypomyelinating Leukodystrophy 10	PYCR2	了解该疾病详情
Hypomyelinating Leukodystrophy 12	VPS11	了解该疾病详情
Hypomyelinating Leukodystrophy 14	UFM1	了解该疾病详情
Hypomyelinating Leukodystrophy 3	AIMP1	了解该疾病详情
Hypomyelinating Leukodystrophy 4	HSPD1	了解该疾病详情
Hypomyelinating Leukodystrophy 5	HYCC1	了解该疾病详情
Hypomyelinating Leukodystrophy 7 with or without oligodontiaand/or hypogonadotropic hypogonadism	POLR3A	了解该疾病详情
Hypomyelinating Leukodystrophy 8	POLR3B	了解该疾病详情
Epilepsy, Hearing Loss, And Mental Retardation Syndrome	AFG2A	―
Epilepsy with Variable Learning Disabilities and BehaviorDisorders	SYN1	―
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation,and Electrolyte Imbalance Syndrome	KCNJ10	―
Arterial tortuosity syndrome	SLC2A10	―
Short-Rib Thoracic Dysplasia 14 With Polydactyly	KIAA0586	―
Short-rib throacic dysplasia 15 with polydactyly	DYNC2LI1	―
Short-rib thoracic dysplasia 10 with or without polydactyly	IFT172	了解该疾病详情
Short-rib thoracic dysplasia 11 with or without polydactyly	DYNC2I2	了解该疾病详情
Short-rib thoracic dysplasia 13 with or without polydactyly	CEP120	了解该疾病详情
Short-rib thoracic dysplasia 2 with or without polydactyly	IFT80	了解该疾病详情
Short-rib thoracic dysplasia 3 with or without polydactyly	DYNC2H1	了解该疾病详情
Short-rib thoracic dysplasia 4 with or without polydactyly	TTC21B	了解该疾病详情
Short-rib thoracic dysplasia 6 with or without polydactyly	NEK1	了解该疾病详情
Short-rib thoracic dysplasia 7 with or without polydactyly	WDR35	了解该疾病详情
Short-rib thoracic dysplasia 8 with or without polydactyly	DYNC2I1	了解该疾病详情
Short-rib thoracic dysplasia 9 with or without polydactyly	IFT140	了解该疾病详情
Short Stature, Microcephaly, And Endocrine Dysfunction	XRCC4	―
Multicentric Osteolysis, Nodulosis, and Arthropathy	MMP2	―
Multiple Sulfatase Deficiency	SUMF1	了解该疾病详情
Multiple congenital anomalies-hypotonia-seizures syndrome 1	PIGN	―
Multiple congenital anomalies-hypotonia-seizures syndrome 3	PIGT	―
Multiple Pterygium Syndrome,lethal type	CHRNA1	―
Multiminicore disease	RYR1	了解该疾病详情
Multisystem Autoimmune Disease With Facial Dysmorphism	ITCH	―
Multiple mitochondrial dysfunctions syndrome 1	NFU1	了解该疾病详情
Multiple mitochondrial dysfunctions syndrome 2	BOLA3	了解该疾病详情
Multiple mitochondrial dysfunctions syndrome 3	IBA57	了解该疾病详情
Multiple mitochondrial dysfunctions syndrome 4	ISCA2	了解该疾病详情
Polymicrogyria with Seizures	RTTN	―
Catecholaminergic Polymorphic Ventricular Tachycardia 2	CASQ2	―
Catecholaminergic Polymorphic Ventricular Tachycardia 5 with or without muscle weakness	TRDN	―
Childhood-Onset Polyarteritis Nodosa	ADA2	―
Childhood-onset neurodegeneration with ataxia, dystonia, andgaze palsy	SQSTM1	―
Developmental Delay With Short Stature, Dysmorphic Features, And Sparse Hair	DPH1	―
GAPO Syndrome	ANTXR1	―
Leigh Syndrome, French-Canadian Type	LRPPRC	了解该疾病详情
Metabolic encephalomyopathic crises, recurrent, withrhabdomyolysis, cardiac arrhythmias, and neurodegeneration	TANGO2	―
Fanconi anemia, complementation group B	FANCB	了解该疾病详情
Fanconi anemia, complementation group E	FANCE	了解该疾病详情
Fanconi anemia, complementation group F	FANCF	了解该疾病详情
Fanconi anemia, complementation group	L FANCL	―
Fanconi anemia, complementation group Q	ERCC4	了解该疾病详情
Fanconi anemia, complementation group T	UBE2T	了解该疾病详情
Nonphotosensitive Trichothiodystrophy 4	MPLKIP	―
Pulmonary Surfactant Metabolism Dysfunction 1	SFTPB	―
Pulmonary Surfactant Metabolism Dysfunction 3	ABCA3	―
Pulmonary Venoocclusive Disease 2	EIF2AK4	―
Combined Oxidative Phosphorylation Deficiency 10	MTO1	了解该疾病详情
Combined Oxidative Phosphorylation Deficiency 11	RMND1	了解该疾病详情
Combined Oxidative Phosphorylation Deficiency 12	EARS2	了解该疾病详情
Combined Oxidative Phosphorylation Deficiency 14	FARS2	了解该疾病详情
Combined Oxidative Phosphorylation Deficiency 15	MTFMT	了解该疾病详情
Combined Oxidative Phosphorylation Deficiency 17	ELAC2	了解该疾病详情
Combined Oxidative Phosphorylation Deficiency 1	GFM1	了解该疾病详情
Combined Oxidative Phosphorylation Deficiency 20	VARS2	了解该疾病详情
Combined Oxidative Phosphorylation Deficiency 23	GTPBP3	了解该疾病详情
Combined Oxidative Phosphorylation Deficiency 24	NARS2	了解该疾病详情
Combined Oxidative Phosphorylation Deficiency 27	CARS2	了解该疾病详情
Combined Oxidative Phosphorylation Deficiency 35	TRIT1	了解该疾病详情
Combined Oxidative Phosphorylation Deficiency 3	TSFM	了解该疾病详情
Combined Oxidative Phosphorylation Deficiency 4	TUFM	―
Combined Oxidative Phosphorylation Deficiency 7	MTRFR	―
Combined Oxidative Phosphorylation Deficiency 8	AARS2	―
Diarrhea 5 With Congenital Tufting Enteropathy	EPCAM	了解该疾病详情
Diarrhea 7	DGAT1	―
Diarrhea with Microvillus Atrophy 2	MYO5B	―
Glycerol Kinase Deficiency	GK	―
Nemaline Myopathy 10	LMOD3	了解该疾病详情
Nemaline Myopathy 1	TPM3	了解该疾病详情
Nemaline Myopathy 5	TNNT1	了解该疾病详情
Nemaline Myopathy 7	CFL2	了解该疾病详情
Nemaline Myopathy 8	KLHL40	了解该疾病详情
Nemaline Myopathy 9	KLHL41	了解该疾病详情
Hepatic Veno-Occlusive Disease with Immunodeficiency	SP110	―
Hyper IgE Syndrome	DOCK8	―
Hyperphosphatasia with Mental Retardation Syndrome 1	PIGV	了解该疾病详情
Hyperphosphatasia with Mental Retardation Syndrome 2	PIGO	了解该疾病详情
Hyperphosphatasia with Mental Retardation Syndrome 3	PGAP2	了解该疾病详情
Hyperphosphatasia with Mental Retardation Syndrome 4	PGAP3	了解该疾病详情
Hypermanganesemia With Dystonia 1	SLC30A10	―
Hypermanganesemia with dystonia 2	SLC39A14	―
Hyperuricemia, Pulmonary Hypertension, Renal Failure, AndAlkalosis syndrome	SARS2	―
Hyperprolinemia type I	PRODH	―
Methemoglobinemia Due to Deficiency of MethemoglobinReductase	CYB5R3	―
Ataxia with oculomotor apraxia type 1	APTX	了解该疾病详情
Ataxia with vitamin E deficiency	TTPA	了解该疾病详情
Ataxia-Telangiectasia-Like Disorder 1	MRE11	―
Microphthalmia, isolated 3	RAX	―
Glutamate Formiminotransferase Deficiency	FTCD	―
Glutathione synthetase deficiency	GSS	―
Bone marrow failure syndrome 2	ERCC6L2	―
Bone marrow failure syndrome 3	DNAJC21	―
Sclerosteosis 1	SOST	―
Cerebral creatine deficiency syndrome 2	GAMT	了解该疾病详情
Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1	VPS33B	―
Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 2	VIPAS39	―
Arthrogryposis, Mental Retardation and Seizures	SLC35A3	了解该疾病详情
Photosensitive Trichothiodystrophy 3	GTF2H5	―
Fructose 1,6 Bisphosphatase Deficiency	FBP1	―
Peroxisome biogenesis disorder 10A	PEX3	―
Peroxisome biogenesis disorder 11A	PEX13	―
Peroxisome Biogenesis Disorder 14B	PEX11B	―
Peroxisome biogenesis disorder 2A	PEX5	―
Peroxisome biogenesis disorder 3A(Zellweger)	PEX12	了解该疾病详情
Peroxisome biogenesis disorder 4A	PEX6	了解该疾病详情
Peroxisome biogenesis disorder 5A	PEX2	了解该疾病详情
Peroxisome biogenesis disorder 6A(Zellweger)	PEX10	了解该疾病详情
Peroxisome biogenesis disorder 7A	PEX26	―
Peroxisome biogenesis disorder 8A(Zellweger)	PEX16	―
Peroxisomal Acyl-CoA oxidase deficiency	ACOX1	了解该疾病详情
Treacher Collins Syndrome 3	POLR1C	―
Ataxia, posterior column, with retinitis pigmentosa	FLVCR1	―
Succinic Semialdehyde Dehydrogenase Deficiency	ALDH5A1	―
Lipid storage myopathy due to flavin adenine dinucleotidesynthetase deficiency	FLAD1	―
Myopathy, lactic acidosis, and sideroblastic anemia 1	PUS1	了解该疾病详情
Myopathy, Lactic acidosis, and Sideroblastic anemia 2	YARS2	―
Myopathy With Extrapyramidal Signs	MICU1	―
Mulibrey nanism	TRIM37	―
Ehlers-Danlos Syndrome, Musculocontractural type 1	CHST14	―
Muscular dystrophy-dystroglycanopathy (congenital with and without eye anomalies), type A, 7	CRPPA	―
Myofibrillar Myopathy 7	KY	―
Myofibrillar Myopathy 8	PYROXD1	―
Acute Recurrent Myoglobinuria	LPIN1	―
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	NKX3-2	―
Spondylocarpotarsal Synostosis Syndrome	FLNB	―
Spondyloocular syndrome	XYLT2	―
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy	PCYT1A	―
Spondylocostal dysostosis 1	DLL3	―
Spondylocostal dysostosis 2	MESP2	―
Spondylocostal dysostosis 4	HES7	―
Hypercholesterolemia, familial,1	LDLR	了解该疾病详情
Familial Hyperinsulinemic Hypoglycemia 1	ABCC8	―
Familial Chloride Diarrhea	SLC26A3	―
Familial Candidiasis 2	CARD9	―
Familial Normophosphatemic Tumoral Calcinosis	SAMD9	―
Methylmalonic aciduria and homocystinuria type CblF	LMBRD1	―
Methylmalonic aciduria and homocysteinemia, type cblX	HCFC1	―
Mevalonic Aciduria	MVK	―
Thyroid dyshormonogenesis 5	DUOXA2	―
Thyroid dyshormonogenesis 6	DUOX2	―
Pseudohypoaldosteronism, type I	SCNN1A,SCNN1B	―
Interstitial lung and liver disease	MARS1	―
Omodysplasia 1	GPC6	―
Brittle Cornea Syndrome 1	ZNF469	―
Brittle Cornea Syndrome 2	PRDM5	―
Progressive Myoclonic Epilepsy 1A	CSTB	―
Progressive Myoclonic Epilepsy 1B	PRICKLE1	―
Progressive Myoclonic Epilepsy 3	KCTD7	―
Progressive Myoclonic Epilepsy 4	SCARB2	―
Progressive Myoclonic Epilepsy 6	GOSR2	―
Progressive Familial Intrahepatic Cholestasis 1	ATP8B1	―
Progressive Pseudorheumatoid Dysplasia	CCN6	―
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	NAXE	―
Proximal Renal Tubular Acidosis with Ocular Abnormalities	SLC4A4	―
Cerebral creatine deficiency syndrome 3	GATM	―
Spastic Ataxia 2	KIF1C	―
Spastic Ataxia 3	MARS2	―
Spastic paraplegia and psychomotor retardation with or without seizures	HACE1	―
Megalencephalic Leukoencephalopathy with Subcortical Cysts2A	HEPACAM	―
Giant Axonal Neuropathy-1	GAN	―
Orofaciodigital syndrome XVI	TMEM107	―
Orofaciodigital Syndrome V	DDX59	―
Dilated Cardiomyopathy With Woolly Hair And Keratoderma	DSP	―
Lysinuric Protein Intolerance	SLC7A7	了解该疾病详情
Geroderma Osteodysplasticum	GORAB	―
Tyrosinemia Type II	TAT	了解该疾病详情
Tyrosinemia Type III	HPD	了解该疾病详情
CK Syndrome	NSDHL	―
Refsum disease	PHYH	―
Ehlers-Danlos syndrome, spondylodysplastic type, 1	B4GALT7	―
Cold-induced Sweating Syndrome 1	CRLF1	―
Cold-induced Sweating Syndrome 2	CLCF1	―
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	MTHFD1	―
Combined pituitary hormone deficiency 1	POU1F1	了解该疾病详情
Combined pituitary hormone deficiency 3	LHX3	了解该疾病详情
Desmosterolosis	DHCR24	―
Split-Hand/Foot Malformation 6	WNT10B	―
Lymphoproliferative Syndrome 1	ITK	―
Lymphoproliferative Syndrome 2	CD27	―
Triosephosphate Isomerase Deficiency	TPI1	―
Phosphoglycerate Kinase Deficiency	PGK1	―
Phosphoserine Phosphatase Deficiency	PSPH	―
Thiamine-Responsive Megaloblastic Anemia Syndrome	SLC19A2	―
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral StriatalDegeneration and Progressive Polyneuropathy Type)	SLC25A19	―
Thiamine Metabolism Dysfunction Syndrome 5 (EpisodicEncephalopathy type)	TPK1	―
Sulfocysteinuria	SUOX	―
Craniolenticulosutural Dysplasia	SEC23A	―
Craniofrontonasal syndrome	EFNB1	―
Craniosynostosis and Dental Anomalies	IL11RA	―
Cranioectodermal Dysplasia 1	IFT122	―
Craniofacial Dysmorphism, Skeletal Anomalies, And mental Retardation syndrome	TMCO1	―
Bare lymphocyte syndrome, type II, complementation group A	CIITA	―
Bare lymphocyte syndrome, type II, complementation group B	RFXANK	―
Bare lymphocyte syndrome, type II, complementation group D	RFXAP	―
Chronic Atrial And Intestinal Dysrhythmia	SGO1	―
Trichohepatoenteric syndrome 1	SKIC3	―
Trichohepatoenteric Syndrome 2	SKIC2	―
Ichthyosis Follicularis-Atrichia-Photophobia Syndrome	MBTPS2	―
Microcephaly, progressive, seizures, and cerebral andatrophy	QARS1	―
Immunoskeletal dysplasia with neurodevelopmentalabnormalities	EXTL3	―
Immunodeficiency with Hyper-IgM, type 1	CD40LG	―
Immunodeficiency with Hyper-IgM, type 3	CD40	―
Immunodeficiency-Centromeric Instability-Facial AnomaliesSyndrome 2	ZBTB24	―
Immunodeficiency 10	STIM1	了解该疾病详情
Immunodeficiency 11A	CARD11	了解该疾病详情
Immunodeficiency 12	MALT1	了解该疾病详情
Immunodeficiency 15B	IKBKB	了解该疾病详情
Immunodeficiency 19	CD3D	了解该疾病详情
Immunodeficiency 23	PGM3	了解该疾病详情
Immunodeficiency 24	CTPS1	了解该疾病详情
Immunodeficiency 27A	IFNGR1	了解该疾病详情
Immunodeficiency 28	IFNGR2	了解该疾病详情
Immunodeficiency 31B	STAT1	了解该疾病详情
Immunodeficiency 35	TYK2	了解该疾病详情
Immunodeficiency 40	DOCK2	了解该疾病详情
Immunodeficiency 42	RORC	了解该疾病详情
Immunodeficiency 47	ATP6AP1	了解该疾病详情
Immunodeficiency 48	ZAP70	了解该疾病详情
Immunodeficiency 51	IL17RA	了解该疾病详情
Immunodeficiency 52	LAT	了解该疾病详情
Immunodeficiency 54	MCM4	了解该疾病详情
Immunodeficiency 9	ORAI1	了解该疾病详情
Arthrogryposis, distal, with impaired proprioception and touch	PIEZO2	―
Dopa-responsive dystonia due to sepiapterin reductasedeficiency	SPR	―
Molybdenum cofactor deficiency C	GPHN	―
Molybdenum Cofactor Deficiency Complementation Group B	MOCS2	―
Nijmegen breakage syndrome,	NBN	了解该疾病详情
Nijmegen Breakage Syndrome-like Disorder	RAD50	―
Cystic Leukoencephalopathy without Megalencephaly	RNASET2	―
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And PalmoplantarKeratoderma Syndrome	SNAP29	―
Leukoencephalopathy with Brain Stem and Spinal CordInvolvement and Lactate Elevation	DARS2	―
Hypomyelination with brainstem and spinal cord involvement andleg spasticity	DARS1	―
Cerebral Creatine Deficiency Syndrome 1	SLC6A8	了解该疾病详情
Hydrolethalus Syndrome 1	HYLS1	了解该疾病详情
Hydrolethalus Syndrome 2	KIF7	―
Cerebrotendinous xanthomatosis	CYP27A1	了解该疾病详情
Pontocerebellar hypoplasia type 10	CLP1	了解该疾病详情
Pontocerebellar hypoplasia type 11	TBC1D23	了解该疾病详情
Pontocerebellar hypoplasia type 1A	VRK1	了解该疾病详情
Pontocerebellar Hypoplasia type 1B	EXOSC3	―
Pontocerebellar Hypoplasia, Type 1C	EXOSC8	―
Pontocerebellar hypoplasia type 2A	TSEN54	―
Pontocerebellar hypoplasia type 2B	TSEN2	―
Pontocerebellar Hypoplasia type 2D	SEPSECS	了解该疾病详情
Pontocerebellar Hypoplasia, Type 2E	VPS53	了解该疾病详情
Pontocerebellar hypoplasia type 6	RARS2	了解该疾病详情
Pontocerebellar hypoplasia, type 7	TOE1	了解该疾病详情
Pontocerebellar hypoplasia type 9	AMPD2	了解该疾病详情
Cerebroretinal Microangiopathy With Calcifications And	Cysts CTC1	―
Ventriculomegaly With Cystic Kidney Disease	CRB2	―
Periventricular Nodular Heterotopia 2	ARFGEF2	―
Cerebrooculofacioskeletal Syndrome 2	ERCC2	―
Visceral Heterotaxy 1	ZIC3	―
Visceral Heterotaxy 7	MMP21	―
Mucopolysaccharidosis type VII	GUSB	了解该疾病详情
Urofacial Syndrome 1	HPSE2	―
Urofacial Syndrome 2	LRIG2	―
Parkinson Disease 15	FBXO7	―
Parkinson Disease 19	DNAJC6	―
Pelizaeus-Merzbacher disease	PLP1	―
Poikiloderma with Neutropenia	USB1	―
Purine Nucleoside Phosphorylase Deficiency	PNP	―
Horizontal gaze palsy with progressive scoliosis 1	ROBO3	―
Polyglucosan Body Myopathy 1 With Or WithoutImmunodeficiency	RBCK1	―
Mosaic variegated aneuploidy syndrome 1	BUB1B	―
Rigid Spine Muscular Dystrophy 1	SELENON	―
Juvenile Paget Disease	TNFRSF11B	―
Primary Lateral Sclerosis, Juvenile	ALS2	―
Mild non-BH4-deficient Hyperphenylalaninemia	DNAJC12	―
Achromatopsia 2	CNGA3	了解该疾病详情
Achromatopsia 4	GNAT2	―
Achromatopsia 7	ATF6	―
Hyaline fibromatosis syndrome	ANTXR2	―
Carnitine Palmitoyltransferase I Deficiency	CPT1A	了解该疾病详情
Carnitine Palmitoyltransferase II Deficiency	CPT2	了解该疾病详情
Carnitine-Acylcarnitine Translocase Deficiency	SLC25A20	了解该疾病详情
Chylomicron Retention Disease	SAR1B	―
Cartilage-hair hypoplasia	RMRP	―
Achondrogenesis type 1A	TRIP11	―
Achondrogenesis type 1B	SLC26A2	了解该疾病详情
Trimethylaminuria	FMO3	―
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	NBAS	―
Short Stature, Onychodysplasia, Facial Dysmorphism, AndHypotrichosis	POC1A	―
Neurodevelopmental disorder with progressive microcephaly,spasticity, and brain anomalies	PLAA	―
Neurodevelopmental disorder with microcephaly, hypotonia,variable and brain anomalies	PRUNE1	―
Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures	WDR45B	―
Neurodevelopmental disorder with or without hypotonia,seizures, and cerebellar atrophy	PIGG	―
Neurodevelopmental disorder with microcephaly, seizures, andcortical atrophy	VARS1	―
Neurodegeneration with brain iron accumulation 1	PANK2	―
Neurodegeneration with brain iron accumulation 2B	PLA2G6	―
Neurodegeneration with brain iron accumulation 4(MitochondrialMembrane Protein-Associated Neurodegeneration)	C19orf12	―
Neuronal Ceroid-Lipofuscinoses 10	CTSD	―
Neuronal Ceroid Lipofuscinosis 8	CLN8	了解该疾病详情
Nephrotic Syndrome Type 11	NUP107	了解该疾病详情
Nephrotic Syndrome Type 12	NUP93	了解该疾病详情
Nephrotic Syndrome Type 14	SGPL1	了解该疾病详情
Nephrotic Syndrome Type 2	NPHS2	了解该疾病详情
Nephrotic Syndrome Type 3	PLCE1	了解该疾病详情
Nephrotic Syndrome Type 7	DGKE	了解该疾病详情
Nephrotic Syndrome Type 9	COQ8B	了解该疾病详情
Nephronophthisis 16	ANKS6	了解该疾病详情
Nephronophthisis 19	DCDC2	了解该疾病详情
Nephronophthisis 20	MAPKBP1	了解该疾病详情
Nephronophthisis 2	INVS	了解该疾病详情
Nephronophthisis-Like Nephropathy 1	XPNPEP3	―
Renal-Hepatic-Pancreatic Dysplasia 2	NEK8	―
Renal tubular dysgenesis	ACE, AGT, REN	―
Diabetes insipidus, nephrogenic, 2	AQP2	了解该疾病详情
Hypomagnesemia 5, renal, with ocular involvement	CLDN19	―
Growth retardation, impaired intellectual development,hypotonia, and hepatopathy	IARS1	―
Growth Retardation, Developmental Delay, Facial Dysmorphism	FTO	―
Septooptic Dysplasia	HESX1	―
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation,And Seizures	RTN4IP1	―
Retinal Arterial Macroaneurysm With Supravalvular PulmonicStenosis	IGFBP7	―
Retinitis pigmentosa 14	TULP1	了解该疾病详情
Retinitis pigmentosa 59	DHDDS	了解该疾病详情
Retinitis pigmentosa 77	REEP6	―
Retinitis pigmentosa with or without skeletal anomalies	CWC27	―
Retinal dystrophy with macular staphyloma	CFAP410	―
Cone-rod dystrophy	AIPL1	―
Cone-Rod Dystrophy 10	SEMA4A	―
Cone-Rod Dystrophy 3	ABCA4	了解该疾病详情
Spondylometaepiphyseal Dysplasia, Short Limb-Hand type	DDR2	―
bilateral frontoparietal polymicrogyria	ADGRG1	―
Limb pelvis hypoplasia aplasia syndrome	WNT7A	―
Spastic Tetraplegia, Thin Corpus Callosum, And ProgressiveMicrocephaly	SLC1A4	―
Leukodystrophy, hypomyelinating, 9	RARS1	了解该疾病详情
Fetal akinesia deformation sequence 2	RAPSN	了解该疾病详情
Meconium Ileus	GUCY2C	―
Glycosylphosphatidylinositol Biosynthesis Defect 15	GPAA1	―
Glucocorticoid Deficiency 1	MC2R	―
Glucocorticoid Deficiency 2	MRAP	―
Glucocorticoid Deficiency 4	NNT	―
Glycogen Storage Disease type III	AGL	了解该疾病详情
Glycogen storage disease type IXa1/IXa2	PHKA2	―
Glycogen storage disease type IXb	PHKB	―
Glycogen storage disease type IXc	PHKG2	―
Glycogen storage disease type IXd	PHKA1	―
Glycogen Storage Disease type VII	PFKM	了解该疾病详情
Glycogen Storage Disease type VI	PYGL	―
Glycogen Storage Disease type V	PYGM	了解该疾病详情
Glycogen Storage Disease type XIV	PGM1	―
Isolated growth hormone deficiency type III	BTK	―
Intellectual developmental disorder, X-linked, Turner type	HUWE1	―
Asparagine Synthetase Deficiency	ASNS	了解该疾病详情
Sideroblastic Anemia With B-Cell Immunodeficiency, PeriodicFevers,And Developmental Delay	TRNT1	―
Diaphanospondylodysostosis	BMPER	―
Encephalopathy, Progressive, With Or Without Lipodystrophy	BSCL2	―
Sialidosis	NEU1	了解该疾病详情
Ectodermal dysplasia, Ectrodactyly, and macular dystrophySyndrome	CDH3	―
Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth	type EDAR	―
Lathosterolosis	SC5D	―
Reticular Dysgenesis	AK2	―
Epilepsy, early-onset, vitamin B6-dependent	PLPBP	―
Vitamin D-dependent rickets Type IA	CYP27B1	―
Vitamin K-dependent clotting factors, combined deficiency 2	VKORC1	―
Abetalipoproteinemia	MTTP	了解该疾病详情
Alacrima, Achalasia, And Mental Retardation Syndrome	GMPPA	―
Lissencephaly 4	NDE1	了解该疾病详情
Lissencephaly 5	LAMB1	了解该疾病详情
Lissencephaly 6	KATNB1	了解该疾病详情
Lissencephaly 8	TMTC3	了解该疾病详情
Acheiropody	LMBR1	―
Atransferrinemia	TF	―
Chorea-Acanthocytosis	VPS13A	了解该疾病详情
Fatal Infantile Cardioencephalomyopathy due to CytochromeOxidase Deficiency 1	SCO2	―
Fatal Infantile Cardioencephalomyopathy due to CytochromeOxidase Deficiency 2	COX15	―
Congenital Diarrhea 8, Secretory Sodium	SLC9A3	―
Congenital Cataracts, Hearing Loss, And Neurodegeneration	SLC33A1	―
Congenital Bile Acid Synthesis Defect 1	HSD3B7	―
Congenital Bile Acid Synthesis Defect 2	AKR1D1	―
Congenital Bile Acid Synthesis Defect 3	CYP7B1	―
Congenital short bowel syndrome(CLMP)	CLMP	―
Multiple congenital anomalies-hypotonia-seizures syndrome 2	PIGA	―
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	LGI4	―
Hypothyroidism Congenital Nongoitrous 1	TSHR	―
Hypothyroidism Congenital Nongoitrous 4	TSHB	―
Congenital Dyserythropoietic Anemia Type II	SEC23B	―
Congenital Myasthenic Syndrome 10	DOK7	了解该疾病详情
Congenital Myasthenic Syndrome 13	DPAGT1	了解该疾病详情
Congenital Myasthenic Syndrome 14	ALG2	了解该疾病详情
Congenital Myasthenic Syndrome 20	SLC5A7	了解该疾病详情
Congenital Myasthenic Syndrome 3B, fast-channel	CHRND	―
Congenital Myasthenic Syndrome 4A, slow-channel	CHRNE	了解该疾病详情
Congenital Myasthenic Syndrome 5	COLQ	了解该疾病详情
Congenital Myasthenic Syndrome 6	CHAT	了解该疾病详情
Congenital Myasthenic Syndrome 9	MUSK	了解该疾病详情
Muscular dystrophy, congenital, with cataracts and intellectualdisability	INPP5K	―
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10	RXYLT1	了解该疾病详情
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11	B3GALNT2	了解该疾病详情
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A12	POMK	了解该疾病详情
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	POMT1	了解该疾病详情
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	POMT2	了解该疾病详情
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	POMGNT1	了解该疾病详情
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A4	FKTN	了解该疾病详情
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	FKRP	了解该疾病详情
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	LARGE1	了解该疾病详情
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8	POMGNT2	了解该疾病详情
Congenital Stationary Night Blindness, Type 1A	NYX	―
Congenital Stationary Night Blindness, Type 1E	GPR179	―
Congenital Stationary Night Blindness, Type 2B	CABP4	―
Syndromic congenital sodium diarrhea	SPINT2	―
Congenital Hydrocephalus 1	CCDC88C	―
Congenital Prothrombin Deficiency	F2	―
Lipodystrophy, congenital generalized, type 4	CAVIN1	―
Adrenal Insufficiency, Congenital, with 46XY Sex Reversal, Partial or Complete	CYP11A1	―
Congenital Disorders of Glycosylation Ib	MPI	了解该疾病详情
Congenital Disorders of Glycosylation Ic	ALG6	了解该疾病详情
Congenital Disorders of Glycosylation Id	ALG3	―
Congenital Disorders of Glycosylation Ig	ALG12	―
Congenital Disorders of Glycosylation Ih	ALG8	―
Congenital Disorders of Glycosylation Ik	ALG1	―
Congenital Disorders of Glycosylation Il	ALG9	―
Congenital Disorders of Glycosylation Im	DOLK	―
Congenital Disorders of Glycosylation In	RFT1	―
Congenital Disorders of Glycosylation Ip	ALG11	―
Congenital Disorders of Glycosylation Iq	SRD5A3	―
NGLY1-related congenital disorder of deglycosylation（old：CDG type Iv）	NGLY1	―
Congenital Disorders of Glycosylation Iy	SSR4	―
Congenital Disorders of Glycosylation IIa	MGAT2	―
Congenital Disorders of Glycosylation IIe	COG7	―
Congenital Disorders of Glycosylation IIk	TMEM165	―
Congenital Disorders of Glycosylation IIl	COG6	―
Congenital Disorders of Glycosylation Iin	SLC39A8	―
Congenital Disorders of Glycosylation Iio	CCDC115	―
Congenital Insensitivity to Pain	SCN9A	了解该疾病详情
Congenital alopecia and T-Cell Immunodeficiency and nail dystrophy	FOXN1	―
Congenital Amegakaryocytic Thrombocytopenia	MPL	―
Congenital Afibrinogenemia	FGA, FGB, FGG	―
Congenital fiber-type disproportion myopathy	ACTA1	―
Congenital Thrombotic thrombocytopenic purpura	ADAMTS13	―
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	PRG4	―
Fibrochondrogenesis 1	COL11A1	―
Fibrochondrogenesis 2	COL11A2	―
Mitochondrial DNA depletion syndrome 11	MGME1	了解该疾病详情
Mitochondrial DNA depletion syndrome 13	FBXL4	了解该疾病详情
Mitochondrial DNA depletion syndrome 1	TYMP	了解该疾病详情
Mitochondrial DNA depletion syndrome 2	TK2	了解该疾病详情
Mitochondrial DNA depletion syndrome 3	DGUOK	了解该疾病详情
Mitochondrial DNA depletion syndrome 4A	POLG	―
Mitochondrial DNA depletion syndrome 5	SUCLA2	了解该疾病详情
Mitochondrial DNA depletion syndrome 6	MPV17	了解该疾病详情
Mitochondrial DNA depletion syndrome 7	TWNK	了解该疾病详情
Mitochondrial DNA depletion syndrome 8A/8B	RRM2B	―
Mitochondrial DNA depletion syndrome 9	SUCLG1	了解该疾病详情
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency	ECHS1	―
Mitochondrial complex I deficiency, nuclear type 1	NDUFS4	了解该疾病详情
Mitochondrial complex I deficiency, nuclear type 10	NDUFAF2	了解该疾病详情
Mitochondrial complex I deficiency, nuclear type 12	NDUFA1	了解该疾病详情
Mitochondrial complex I deficiency, nuclear type 16	NDUFAF5	了解该疾病详情
Mitochondrial complex I deficiency, nuclear type 17	NDUFAF6	了解该疾病详情
Mitochondrial complex I deficiency, nuclear type 19	FOXRED1	了解该疾病详情
Mitochondrial complex I deficiency, nuclear type 21	NUBPL	了解该疾病详情
Mitochondrial complex I deficiency, nuclear type 22	NDUFA10	了解该疾病详情
Mitochondrial complex I deficiency, nuclear type 4	NDUFV1	了解该疾病详情
Mitochondrial complex I deficiency, nuclear type 5	NDUFS1	了解该疾病详情
Mitochondrial complex I deficiency, nuclear type 6	NDUFS2	了解该疾病详情
Mitochondrial complex I deficiency, nuclear type 7	NDUFV2	了解该疾病详情
Mitochondrial complex I deficiency, nuclear type 9	NDUFS6	了解该疾病详情
Mitochondrial complex I deficiency, nuclear type 2	NDUFS8	了解该疾病详情
Mitochondrial complex I deficiency, nuclear type 3	NDUFS7	了解该疾病详情
Mitochondrial complex II deficiency, nuclear type 2	SDHAF1	―
Mitochondrial complex IV deficiency, nuclear type 1	SURF1	了解该疾病详情
Mitochondrial complex IV deficiency, nuclear type 3	COX10	了解该疾病详情
Mitochondrial complex III deficiency nuclear type 2	TTC19	―
Mitochondrial complex III deficiency nuclear type 5	UQCRC2	―
Mitochondrial complex III deficiency nuclear type 8	LYRM7	―
Mitochondrial complex IV deficiency, nuclear type 11	COX20	了解该疾病详情
Mitochondrial complex IV deficiency, nuclear type 12	PET100	了解该疾病详情
Mitochondrial complex IV deficiency, nuclear type 17	COA8	了解该疾病详情
Mitochondrial complex I deficiency, nuclear type 20	ACAD9	了解该疾病详情
Mitochondrial Complex V (ATP Synthase) Deficiency, NuclearType 2	TMEM70	―
Mitochondrial Neurodevelopmental disorder with abnormalmovements and lactic acidosis with or without seizures	WARS2	―
Adenylosuccinase Deficiency	ADSL	―
Infantile Transient Liver Failure	TRMU	了解该疾病详情
Cerebellofaciodental Syndrome	BRF1	―
Cerebellar ataxia, mental retardation, and dysequilibriumsyndrome 1	VLDLR	了解该疾病详情
Cerebellar ataxia, mental retardation, and dysequilibriumsyndrome 2	WDR81	―
Cerebellar ataxia, mental retardation, and dysequilibriumsyndrome 4	ATP8A2	―
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	RNU4ATAC	―
Microcephalic Osteodysplastic Primordial Dwarfism, Type II	PCNT	―
Microcephaly,Short Stature, And Limb Abnormalities	DONSON	―
Microcephaly, Seizures, Spasticity, And Brain Calcifications	PCDH12	―
Microcephaly, Epilepsy, and Diabetes Syndrome	IER3IP1	―
Microcephaly, Short Stature, And Impaired Glucose Metabolism1	TRMT10A	―
Microcephaly-Capillary Malformation Syndrome	STAMBP	―
Microphthalmia with coloboma 3	VSX2	了解该疾病详情
Acrodermatitis Enteropathica, Zinc-Deficiency Type	SLC39A4	―
Neonatal Bartter syndrome type 4A with sensorineural deafness	BSND	―
Citrullinemia, Type II, Neonatal-Onset	SLC25A13	了解该疾病详情
Neonatal Diabetes Mellitus with Congenital Hypothyroidism	GLIS3	―
Neonatal Severe Hyperparathyroidism	CASR	―
Lethal Neonatal Rigidity and Multifocal Seizure Syndrome	BRAT1	―
Hemochromatosis, type 2A	HJV	了解该疾病详情
Platelet abnormalities with eosinophilia and immune-mediatedinflammatory disease	ARPC1B	―
Homocystinuria due to MTHFR deficiency	MTHFR	―
Moyamoya disease 6 with or without achalasia	GUCY1A1	―
Fumarase Deficiency	FH	了解该疾病详情
Severe Congenital Neutropenia, Autosomal Recessive,3	HAX1	了解该疾病详情
Severe Congenital Neutropenia, Autosomal Recessive,4	G6PC3	―
Severe Congenital Neutropenia, Autosomal Recessive,5	VPS45	了解该疾病详情
Severe Congenital Neutropenia, Autosomal Recessive,6	JAGN1	―
Fucosidosis	FUCA1	了解该疾病详情
Inflammatory Bowel Disease 28	IL10RA	―
Anterior segement dysgenesis 2	FOXE3	―
Anterior segement dysgenesis 7	PXDN	―
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	STRADA	―
Insulin-Like Growth Factor I, Resistance to	IGF1R	―
Hereditary Sensory and Autonomic Neuropathy type IIB	RETREG1	―
Hereditary Sensory and Autonomic Neuropathy type II	WNK1	―
Hereditary Sensory and Autonomic Neuropathy type V	NGF	了解该疾病详情
Hereditary Sensory and Autonomic Neuropathy type VIII	PRDM12	―
Hereditary Hyperekplexia 3	SLC6A5	―
Hereditary Hyperekplexia 4	ATAD1	―
Hemochromatosis type 2B	HAMP	了解该疾病详情
Hereditary Folate Malabsorption	SLC46A1	―
Hereditary Motor And Sensory Neuropathy type VIB	SLC25A46	―
Ethylmalonic Encephalopathy	ETHE1	了解该疾病详情
Isobutyryl-CoA dehydrogenase deficiency	ACAD8	―
Striatonigral Degeneration, Infantile	NUP62	―
Generalized Arterial Calcification of Infancy 2	ABCC6	―
Hypotonia, Infantile, With Psychomotor Retardation and Characteristic facies 1	NALCN	―
Hypotonia, Infantile, With Psychomotor Retardation and Characteristic facies 2	UNC80	―
Hypotonia, Infantile, With Psychomotor Retardation and Characteristic facies 3	TBCK	―
Infantile Parkinsonism-Dystonia	SLC6A3	―
Infantile Sudden cardiac failure	PPA2	―
Free sialic acid storage disease, infantile form	SLC17A5	了解该疾病详情
Infantile Cerebellar-Retinal Degeneration	ACO2	―
Right Atrial Isomerism	GDF1	―
Primary Autosomal Recessive Microcephaly 10	ZNF335	了解该疾病详情
Primary Autosomal Recessive Microcephaly 15	MFSD2A	了解该疾病详情
Primary Autosomal Recessive Microcephaly 17	CIT	了解该疾病详情
Primary Autosomal Recessive Microcephaly 1	MCPH1	了解该疾病详情
Primary Autosomal Recessive Microcephaly 20	KIF14	了解该疾病详情
Primary Autosomal Recessive Microcephaly 2, With Or WithoutCorticalmalformations	WDR62	了解该疾病详情
Primary Autosomal Recessive Microcephaly 3	CDK5RAP2	了解该疾病详情
Primary Autosomal Recessive Microcephaly 4	KNL1	了解该疾病详情
Primary Autosomal Recessive Microcephaly 5	ASPM	了解该疾病详情
Primary Autosomal Recessive Microcephaly 6	CPAP	了解该疾病详情
Primary Autosomal Recessive Microcephaly 7	STIL	了解该疾病详情
Primary Coenzyme Q10 deficiency 1	COQ2	了解该疾病详情
Primary Coenzyme Q10 deficiency 4	COQ8A	了解该疾病详情
Primary Coenzyme Q10 deficiency 6	COQ6	了解该疾病详情
Primary Coenzyme Q10 deficiency 7	COQ4	了解该疾病详情
Primary Hyperoxaluria Type I	AGXT	了解该疾病详情
Primary Open Angle Glaucoma 3A	CYP1B1	―
Distal Arthrogryposis type 5D	ECEL1	―
Distal Renal Tubular Acidosis with Hemolytic Anemia	SLC4A1	―
Early-Onset Myopathy, Areflexia, Respiratory Distress, andDysphagia	MEGF10	―
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	TBCD	―
Early Infantile Epileptic Encephalopathy 16	TBC1D24	了解该疾病详情
Early Infantile Epileptic Encephalopathy 25	SLC13A5	了解该疾病详情
Early Infantile Epileptic Encephalopathy 28	WWOX	了解该疾病详情
Early Infantile Epileptic Encephalopathy 37	FRRS1L	了解该疾病详情
Early Infantile Epileptic Encephalopathy 38	ARV1	了解该疾病详情
Early Infantile Epileptic Encephalopathy 3	SLC25A22	了解该疾病详情
Early Infantile Epileptic Encephalopathy 44	UBA5	了解该疾病详情
Early Infantile Epileptic Encephalopathy 48	AP3B2	了解该疾病详情
Early Infantile Epileptic Encephalopathy 49	DENND5A	了解该疾病详情
Early Infantile Epileptic Encephalopathy 8	ARHGEF9	了解该疾病详情
Early Infantile Epileptic Encephalopathy 9	PCDH19	了解该疾病详情
Proliferative Vasculopathy And Hydranencephaly-HydrocephalySyndrome	FLVCR2	―
Mucolipidosis III alpha/beta	GNPTAB	了解该疾病详情
Mucolipidosis III Gamma	GNPTG	了解该疾病详情
Xeroderma Pigmentosum Group A	XPA	―
Xeroderma Pigmentosum Group C	XPC	―
Xeroderma Pigmentosum Group G	ERCC5	―
Cortical Malformations, Occipital	LAMC3	―
Branched-chain Ketoacid Dehydrogenase Kinase Deficiency	BCKDK	―
Limb-Girdle Muscular Dystrophy type 2E	SGCB	了解该疾病详情
Limb-Girdle Muscular Dystrophy type 2F	SGCD	―
Limb-Girdle Muscular Dystrophy type 2G	TCAP	―
Limb-Girdle Muscular Dystrophy type 2H	TRIM32	―
Limb-Girdle Muscular Dystrophy type 2S	TRAPPC11	―
Limb-Girdle Muscular Dystrophy type 2T	GMPPB	―
Acromesomelic dysplasia 1	NPR2	―
Acromesomelic dysplasia 2A	GDF5	―
Acromesomelic dysplasia 3	BMPR1B	―
Rhizomelic Chondrodysplasia Punctata type 1	PEX7	了解该疾病详情
Rhizomelic Chondrodysplasia Punctata type 2	GNPAT	―
Rhizomelic chondrodysplasia punctata, type 3	AGPS	了解该疾病详情
Lipoyltransferase 1 deficiency	LIPT1	―
Lipoid Congenital Adrenal Hyperplasia	STAR	了解该疾病详情
Pycnodysostosis	CTSK	了解该疾病详情
Lethal Arthrogryposis With Anterior Horn Cell Disease	GLE1	―
Popliteal Pterygium Syndrome, Lethal Type	RIPK4	―
Lethal congenital contracture syndrome 11	GLDN	―
Lethal Congenital Contracture Syndrome 2	ERBB3	―
Lethal Congenital Contracture Syndrome 3	PIP5K1C	―
Lethal Congenital Contracture Syndrome 7	CNTNAP1	―
Lethal Restrictive Dermopathy	ZMPSTE24	―
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	OTUD6B	―
Intellectual developmental disorder with cardiac arrhythmia	GNB5	―
Foveal Hypoplasia 2	SLC38A8	―
Centronuclear Myopathy 2	BIN1	―
Severe Combined Immunodeficiency with Microcephaly, GrowthRetardation, and Sensitivity to Ionizing Radiation	NHEJ1	―
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive	IL7R	―
Transcobalamin II Deficiency	TCN2	―
Transaldolase Deficiency	TALDO1	―
Autoimmune Polyendocrine Syndrome Type 1	AIRE	了解该疾病详情
Syndromic Microphthalmia 12	RARB	―
Microphthalmia, syndromic 9	STRA6	―
Histiocytosis-lymphadenopathy plus syndrome	SLC29A3	―
Aromatic L-Amino Acid Decarboxylase Deficiency	DDC	―
Orofaciodigital Syndrome XIV	C2CD3	―
Cone-Rod Dystrophy 16	CFAP418	―
Achromatopsia 3	CNGB3	了解该疾病详情

在Hiro 诊所可排查的隐性遗传病

在Hiro 诊所，可以在产前对与严重隐性遗传病相关的基因进行筛查。本检测通过提取并分析从母亲和父亲口腔黏膜（口腔内侧腮帮）采集的细胞基因，基于父母双方的基因信息，评估胎儿患有严重遗传性疾病的风险。根据本院以往的统计数据，约有 70% 的受检者携带有 1 个或多个隐性基因变异。即便属于携带者，本人通常也不会出现任何症状。

例如，即使是发病率为四万分之一的罕见隐性遗传病，人群中基因携带者（携带有异常基因但未发病的人）的比例也高达百分之一。这项检测有助于明确母亲和父亲是否为某种基因的携带者，从而评估下一代患隐性遗传病的风险。

在Hiro 诊所认为，明确携带者基因并通过其组合来排查隐性遗传病风险，是一项具有重要临床价值的检测。

本检测的核心特色在于：对此前已知存在变异的所有基因组合进行全方位检测，并准确判断该基因变异是否真正具有致病性。

基因因人而异。即便在至关重要的基因中，这种变异也非常普遍，正是这种基因的多样性造就了每一个独一无二的人。然而，在这些基因变异中，有些确实会带来致病风险。

全球数据库共享着各种基因组合的信息，通过检索这些数据库，我们可以精准排查某种基因变异是否具有致病性。

当母亲和父亲在基因的同一部位均携带有致病变异时，胎儿发病的风险就会极高。但是，仅仅观察基因变异本身是没有意义的，关键在于必须对该基因变异是否真正属于致病异常做出专业判读（基因功能注释）。

在美国，美国妇产科医师学会（American College of Obstetricians and Gynecologists: ACOG）制定了如下建议书。其核心观点在于：至少应当向所有孕妇提供有关此类检测的信息。

ACOG 委员会意见（第 691 号）^21）（概要摘录）
・单病种专项携带者筛查的累积费用，有时可能高于市售的扩展型携带者筛查（ECS）。在选择携带者筛查方案时，应当充分考量患者个体及医疗体系所承担的经济成本。
・应当向所有孕妇提供关于携带者筛查（genetic carrier screening）的信息。患者（patient）在接受遗传咨询后，亦有权拒绝接受检测。
・携带者筛查与遗传咨询最理想的时机是在备孕期（妊娠前）进行。
・若明确受检者为某种疾病的携带者（carrier），其伴侣也应当在接受遗传咨询后获得检测建议。若留给产前诊断决策的时间较为紧迫，建议患者与伴侣同时进行检测（平行检测）。
・若夫妻/伴侣双方均为同一疾病的携带者，应当为其提供遗传咨询，并共同探讨产前诊断或辅助生殖技术，以降低生育患儿的风险。
・若证实为携带者，其亲属同样面临携带有相同基因变异的风险。因此应鼓励患者将该风险及携带者筛查的可行性告知亲属。但妇产科医生及医疗提供者在未经患者授权的情况下，不得擅自泄露此信息。
・获取患者的家族史、并在可能的情况下了解其伴侣的先天性遗传风险至关重要。家族史应包含家族的族裔背景及是否存在血缘近亲结婚等信息。若存在相关家族史，应当提供特定疾病的专项检测，患者亦可从遗传咨询中获益。
・针对特定疾病的携带者筛查，人的一生原则上只需进行一次，检测结果应妥善保存于患者的个人健康档案中。考虑到遗传学检测技术的日新月异，未来的新型检测项目可能会涵盖更多新增的变异位点。是否需要重新检测，应当在遗传学专业人士的指导下慎重决定，因为他们最能科学评估再次检测以明确变异的实际获益。
・产前携带者筛查不能替代新生儿筛查，同样，新生儿筛查也无法替代产前携带者筛查所具备的潜在临床价值。
・如果患者明确希望针对某种特定疾病进行携带者筛查，且该检测相比其他筛查手段更为合理可行，则在充分告知其风险、获益及检测局限性后，无论其族裔或家族史如何，均应当为其提供所希望的检测。

关于隐性遗传病基因检测

检测方法与检测局限性

采用标准化方法提取基因组脱氧核糖核酸（gDNA），并在构建 DNA 文库前进行机械片段化处理。
目标基因组区域的 DNA 富集采用基于溶液的杂交法完成，并通过代世代测序（NGS）确定序列。
将测序比对至参考基因组，并使用自有的生物信息学分析流程进行变异鉴定。
本隐性遗传检测可识别单核苷酸变异（SNV）、小型插入和缺失（Indels，≤30 个碱基）以及拷贝数变异（CNV）。
变异按照美国医学遗传学与基因组学学会（ACMG）指南的 3-5 级标准进行分类。
变异分类与解读使用 Varsome Clinical 平台，并基于检测时的最新医学信息。
本检测仅报告致病性（Pathogenic）及可能致病性（Likely Pathogenic）变异。即便检测出意义未明变异（VUS）、良性或可能良性变异，亦不予报告。
针对临床解读与结果，建议接受遗传咨询。
A: 常染色体检测结果分类如下：
A-1：“未检测出具有临床意义的变异”
虽然这不能百分之百保证受检者绝对不是遗传病携带者，但表明不存在相关基因变异，属于携带者的可能性极低。
A-2：“检测出具有临床意义的变異”
明确鉴定出基因变异，表明受检者为该疾病的携带者。
在此情况下，受检者有可能同时是两种或两种以上疾病的携带者。
携带者通常不会表现出任何疾病症状。
然而，如果两条染色体上的基因均出现异常，亦不能排除受检者目前已经患病或将来发病的可能性。
B: X 连锁遗传病检测结果分类如下：
B-1：“未检测出具有临床意义的变异”
表明不存在遗传性变异；若受检者为男性，提示未患病；若受检者为女性，提示为携带者的可能性极低，但不能完全排除。
B-2：“检测出具有临床意义的变异”：
表明鉴定出基因变异。若受检者为女性，提示其可能为携带者。
若受检者为男性，则提示其目前可能已经患病，或未来存在发病风险。
但由于该检测面板涵盖的疾病群体严重程度各异，某些情况下可能临床上并不表现出症状。
本检测旨在通过靶向所有编码外显子、MANE 和/或标准转录本以及相邻内含子序列的 10bp 区域，排查与目标基因相关的所有变异。
本检测的设计目的不包含检测靶向区域之外的变异。
除非另有说明，启动子及其他非编码区域的序列变异（SNV 和 Indels）不在本检测的范围之内。
对于目标基因中被认为具有重要临床意义的特定非编码区序列变异（SNV 和 Indels），将纳入分析。
当在同一个基因中鉴定出两个变异时，无法区分它们是位于同一条染色体上（顺式 cis）还是位于不同的染色体上（反式 trans）。
倒位、重排、多倍体、表观遗传学影响等基因变异形式，不属于本检测的覆盖范围。
包含重复序列的靶向区域内的特定序列变异（SNV 和 Indels）、片段重复及伪基因等高度同源序列，以及高/低 GC 含量的区域，可能无法被有效检测。
拷贝数变异（CNV）的计算去除了重复读段，采用唯一比对的高质量测序读段进行。
通过 GC 含量标准化与测序深度覆盖度法，对靶向区域的部分子集开展 CNV 检测。
当检测到的覆盖度显著偏离参考基准推算的覆盖度时，即判定存在 CNV 异常。
CNV 检测的分辨率可达到数个外显子级别。
若 CNV 呈阳性，将使用正交法（复核证实法）进行确认。
针对极难比对映射的区域、重复序列、伪基因或高/低 GC 含量的基因组区域，无法开展 CNV 检测。

由于基于 NGS 的 CNV 检测灵敏度/特异度低于正交定量法，因此未报告 CNV 并不绝对保证不存在 CNV。
虽然目标基因中不存在致病变异可以降低患病风险，但不能完全排除患有疾病相关综合征的可能性。

补充信息与披露说明

检测并不一定能鉴定出与被筛查疾病相关的全部变异。
尽管本检测具有极高的准确性，但受限于技术或生物学局限性，仍存在假阳性或假阴性的可能性。
这些局限因素包括罕见的遗传变异、嵌合现象、输血史、骨髓移植史或其他罕见的分子事件。
部分未被检测出的基因变异仍有可能导致发病，且部分变异并未涵盖在携带者筛查测试的范围内。
基因检测是诊断过程中的重要环节，但并不总是能给出决定性的结论。在某些情况下，即使存在基因变异，检测也可能无法将其识别。
这源于当前医学认知或检测技术本身的局限。
建议结合其他临床数据与临床体征进行综合评估。
检测结果应当始终与患者的其他临床发现结合起来进行考量。
转诊推荐本检测的临床医生，有责任承担包括是否需要进行追加基因检测等建议在内的检测前后遗传咨询。
在某些情况下，可能需要开展额外的诊断性检查。

专业监修

冈博史（Oka Hiroshi）／医疗法人社团福美会在Hiro 诊所总院长兼实验室总监
毕业于庆应义塾大学医学部，先后通过日本及美国的医师执业资格考试。完成临床研修后取得医学博士学位。持有全日本仅约 20 人拥有的实验室总监资格，并与妇产科、儿科及临床遗传学专科医生紧密合作，积极致力于包括遗传咨询在内的产前筛查与诊断服务。

常见问题

Q. 什么是携带者（保因者）？

是指基因中携带有突变但自身并未显现出症状的人。只要一对基因中的另一侧基因正常，就不会发病。在日本，据推算约有 70% 的人携带有某种疾病的变异基因。

Q. 为什么需要夫妻/伴侣双方共同接受检测？

隐性遗传病只有在父亲和母亲双方均携带有相同基因变异时，才有可能遗传给孩子并导致发病。仅凭单方的检测结果无法全面判断，因此夫妻共同参与的“双人联合检测”至关重要。

Q. 何时可以获取检测结果？

采集的样本送达检测中心后，约 3 周后将通过电子邮件向您出具报告。本报告与静脉采血开展的 NIPT 检测报告相互独立。

Q. 如果发现患病风险较高，该怎么办？

临床上可能会建议进行羊水检查作为确诊手段。加入我们的“羊水检查补贴保障”后，根据所选套餐，最高可获得 30 万日元（含税）的费用补助。

Q. 本检测可以与 NIPT 同时进行吗？

可以联合进行。对于已申请 NIPT 的受检者，可以享受优惠的选配套餐价格申请携带者筛查测试 228。未进行 NIPT 的客户亦可单独进行本检测。

Q. 采样过程会有疼痛感吗？

只需使用专用采样套件轻擦拭脸颊内侧（口腔黏膜）采集细胞即可。不涉及采血或穿刺针头，因此完全没有任何疼痛感。

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医師監修監修日:2024年1月10日

岡博史 (医師・医学博士／ヒロクリニック統括院長)

日本皮膚科学会皮膚科専門医／日本医師会産業医／東京衛生検査所指導監督医

この記事は、ヒロクリニックNIPTの編集・監修体制にもとづき、資格を持つ医師が内容を確認しています。

约 70% 的父母为携带者的携带者筛查测试（228 种）

约 70% 的父母是携带者？隐性基因检测的实用价值

① 弘医会诊所（Hiro Clinic）的携带者筛查测试 228 是什么？

② 基因“变异”可能会引发疾病

③ 任何人都可能遇到的遗传性疾病

④ 有助于保障母体与胎儿的健康管理

⑤ 日本人群特有的遗传风险

⑥ 迈向未来的医疗——构建公平且人人享有选择权的社会

参考与引用文献

可排查的疾病数量、检测机构与费用

检测流程

携带者筛查测试 228 的选配附加费用

关于隐性遗传病的发病机制

在Hiro 诊所 NIPT 可排查的隐性遗传病

携带者筛查测试 1,200＋ 可排查的隐性遗传病（1,232 种）

在Hiro 诊所可排查的隐性遗传病

关于隐性遗传病基因检测

常见问题

携带者筛查测试 228 的
选配附加费用

携带者筛查测试 1,200＋可排查的隐性遗传病（1,232 种）