遺傳疾病帶因者篩檢衛教資訊
慧智孕前帶因篩檢
兩個人都健康，也可能帶有隱性遺傳疾病基因
帶因者通常沒有症狀，許多人是在準備懷孕、接受帶因者篩檢後，才第一次知道自己的帶因狀況。慧智帶因篩檢（SOFIVA Carrier Scan）依檢測範圍分為 v1.0、v2.0、v3.0 三個版本，分別涵蓋 6 項、155 項與 611 項疾病。本頁整理檢測的概念、範圍、疾病清單與報告的閱讀重點，供伴侶雙方了解，並作為與醫師討論的參考。
兩個人都健康，為什麼還要知道帶因狀況？
「帶因」和「生病」是兩件不同的事。許多隱性遺傳疾病的帶因者只有一份相關基因發生變異，本身通常沒有明顯症狀，也可能一輩子都不知道自己是帶因者。
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帶因者通常沒有症狀
外表健康、一般健康檢查正常，都無法用來判斷是不是帶因者。帶因者篩檢的目的，就是在沒有症狀的情況下，進一步了解這些遺傳資訊。
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要看伴侶雙方的組合
隱性遺傳疾病需要雙方都帶有同一疾病相關基因的致病變異，下一代罹病的機率才會提高。伴侶雙方一起檢測，可以更完整了解遺傳組合。
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X 連鎖疾病的評估方式不同
部分疾病屬 X 染色體連鎖遺傳，依疾病與受檢者性別個別判讀。男性版本不檢測這類項目，清單中以「男性版不檢測」標示。
三個版本有什麼不同？
三個版本的差別在於檢測的疾病範圍：v3.0 涵蓋 v2.0，v2.0 涵蓋 v1.0。要選擇哪一個版本，建議與婦產科醫師或遺傳醫學專科醫師討論。
慧智帶因篩檢 v1.0
6 項國際指引建議疾病
涵蓋 6 項疾病相關基因，為基本必檢項目。
慧智帶因篩檢 v2.0
155 項嚴重且高帶因率疾病
女性 157 個、男性 148 個基因；包含 v1.0 的項目。
慧智帶因篩檢 v3.0
611 項全球遺傳疾病
女性 611 個、男性 559 個基因；包含 v1.0、v2.0 的項目。
版本比較表
| 比較項目 | v1.0 | v2.0 | v3.0 |
|---|---|---|---|
| 檢測範圍 | 6 項國際指引建議疾病 | 155 項嚴重且高帶因率疾病 | 611 項全球遺傳疾病 |
| 檢測基因數 | 6 項疾病相關基因 | 女性 157 個／男性 148 個 | 女性 611 個／男性 559 個 |
| 涵蓋關係 | 基本必檢項目 | 包含 v1.0 的項目 | 包含 v1.0、v2.0 的項目 |
| 1 人檢測 | 16,000 元 | 28,000 元 | 46,000 元 |
| 2 人同行 | — | 48,000 元 | 69,000 元 |
| 適合了解的方向 | 國際指引建議的基本項目 | 常見且較嚴重的隱性遺傳疾病 | 涵蓋範圍最完整 |
哪些人可以考慮了解帶因狀況？
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正在備孕或已經懷孕
想在懷孕前或孕期了解自己的帶因狀況，可與醫師討論適合的時機與檢測範圍。
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夫妻為近親血緣
近親血緣的夫妻，帶有相同隱性遺傳疾病基因的機會較高，可考慮了解。
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家族有遺傳疾病史
家族中有已知或疑似遺傳性疾病，想了解自己是否帶有相關基因變異。
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精卵捐贈者
精子或卵子捐贈者，可作為捐贈前的遺傳資訊參考。
檢測是怎麼進行的？
以下為慧智帶因篩檢的檢測方式與檢體說明。實際是否適合進行檢測、如何採檢，請與醫師討論。
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檢測方式
次世代定序（基因全外顯子）搭配毛細管電泳分析，針對特定隱性單基因遺傳疾病的致病位點進行篩檢。
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檢體
檢體為血液（EDTA）。檢體凝血、溶血或量不足時，可能需要重新採檢。
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報告內容
報告列出在本次檢測範圍內的帶因結果；結果的意義，建議帶給婦產科醫師或遺傳醫學專科醫師討論。
報告主要告訴您什麼？
帶因者篩檢的結果是生育規劃的參考資訊。檢出帶因時，建議伴侶雙方一起看報告，並諮詢遺傳醫學專科醫師，完整了解報告的意涵。
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檢測範圍內的帶因結果
報告列出在本次檢測範圍內，是否檢出特定遺傳疾病的帶因。
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疾病說明與遺傳模式
提供對應疾病的相關說明與遺傳模式，幫助了解這些結果代表什麼。
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與醫師討論的參考
伴侶雙方的報告可帶給婦產科醫師或遺傳醫學專科醫師，作為進一步討論的參考。
檢測疾病清單
以下依慧智官方資料整理，點開各版本即可查看疾病名稱、基因與帶因率。清單中 HBA1 與 HBA2 同屬甲型海洋性貧血。標示「男性版不檢測」的項目為 X 染色體連鎖疾病，男性版本不檢測。
v1.0 檢測項目（6 項）
| 疾病名稱 | 英文名稱 | 基因 | 帶因率 | 備註 |
|---|---|---|---|---|
| 囊腫纖維症 | Cystic fibrosis | CFTR | 1 in 25 | |
| X染色體脆折症 | Fragile X syndrome | FMR1 | 1 in 250 | 男性版不檢測 |
| 甲型海洋性貧血 | Alpha-thalassemia | HBA1 | 1 in 25 | |
| 甲型海洋性貧血 | Alpha-thalassemia | HBA2 | 1 in 25 | |
| 乙型海洋性貧血 | Beta hemoglobinopathies | HBB | 1 in 129 | |
| 脊髓性肌肉萎縮症 | Spinal muscular atrophy | SMN1/SMN2 | 1 in 54 |
v2.0 增加的疾病（v2.0 共 155 項，含 v1.0）
| 疾病名稱 | 英文名稱 | 基因 | 帶因率 | 備註 |
|---|---|---|---|---|
| ABCC8基因相關家族性胰島素過多症 | Familial hyperinsulinism, ABCC8-related | ABCC8 | 1 in 112 | |
| 性聯遺傳腎上腺腦白質失養症 | Adrenoleukodystrophy, X-linked | ABCD1 | 1 in 10500 | 男性版不檢測 |
| 中鏈醯輔酶Α去氫酶缺乏症 | Medium chain acyl-CoA dehydrogenase deficiency | ACADM | 1 in 354 | |
| 極長鏈醯輔酶A去氫酶缺乏症 | Very long-chain acyl-CoA dehydrogenase deficiency | ACADVL | 1 in 86 | |
| 腺苷脫氨酶缺乏症 | Adenosine deaminase deficiency | ADA | 1 in 224 | |
| 先天性結締組織異常（埃勒斯-當洛斯症候群） | Ehlers-Danlos syndrome,dermatosparaxis type | ADAMTS2 | <1 in 500 | |
| 天冬氨酰葡萄糖胺尿症 | Aspartylglycosaminuria | AGA | <1 in 500 | |
| 肝醣儲積症第3型 | Glycogen storage disease, type III | AGL | 1 in 159 | |
| 原發性高草酸尿症第1型 | Primary hyperoxaluria, type I | AGXT | 1 in 158 | |
| 鳩拉二氏症候群 | Sjogren-Larsson syndrome | ALDH3A2 | 1 in 223 | |
| 遺傳性果糖不耐症 | Hereditary fructose intolerance | ALDOB | 1 in 55 | |
| 低磷酸酯酶症 | Hypophosphatasia | ALPL | 1 in 158 | |
| AMT基因相關甘氨酸腦病/非酮性高甘胺酸血症 | Glycine encephalopathy, AMT-related | AMT | 1 in 262 | |
| ARSA基因相關異染性腦白質退化症 | Metachromatic leukodystrophy, ARSA-related | ARSA | 1 in 100 | |
| 精胺丁二酸酵素缺乏症 | Argininosuccinic aciduria | ASL | 1 in 133 | |
| 卡納萬病（海綿狀腦白質營養不良症） | Canavan disease | ASPA | <1 in 500 | |
| 瓜胺酸血症第一型 | Citrullinemia, type I | ASS1 | 1 in 119 | |
| 共濟失調微血管擴張症候群 | Ataxia-telangiectasia | ATM | 1 in 100 | |
| 威爾森氏症 | Wilson disease | ATP7B | 1 in 90 | |
| 巴德-畢德氏症候群第1型 | Bardet-Biedl syndrome 1 | BBS1 | 1 in 265 | |
| 巴德-畢德氏症候群第10型 | Bardet-Biedl syndrome 10 | BBS10 | 1 in 447 | |
| 巴德-畢德氏症候群第2型 | Bardet-Biedl syndrome 2 | BBS2 | <1 in 500 | |
| 楓糖尿症第1A型 | Maple syrup urine disease, type 1A | BCKDHA | 1 in 321 | |
| 楓糖尿症第1B型 | Maple syrup urine disease, type 1B | BCKDHB | 1 in 364 | |
| GRACILE 症候群 | GRACILE syndrome | BCS1L | 1 in 111 | |
| 布盧姆症候群 | Bloom syndrome | BLM | <1 in 500 | |
| 生物素酶缺乏症 | Biotinidase deficiency | BTD | 1 in 109 | |
| 性聯遺傳無γ球蛋白血症 | X-linked agammaglobulinemia | BTK | <1 in 500 | 男性版不檢測 |
| 肢帶型肌肉失養症第2A型 | Limb-girdle muscular dystrophy, type 2A | CAPN3 | <1 in 500 | |
| CBS基因相關高胱胺酸尿症 | Homocystinuria, CBS-related | CBS | <1 in 500 | |
| 尤塞氏症候群第1D型 | Usher syndrome, type 1D | CDH23 | 1 in 202 | |
| CHAT基因相關先天性肌無力症候群 | Congenital myasthenic syndrome, CHAT-related | CHAT | <1 in 500 | |
| CHRNE基因相關先天性肌無力症候群 | Congenital myasthenic syndrome, CHRNE-related | CHRNE | <1 in 500 | |
| CLN3基因相關-神經元蠟樣脂褐質儲積症 | Neuronal ceroid lipofuscinosis, CLN3-related | CLN3 | 1 in 145 | |
| CLN5基因相關-神經元蠟樣脂褐質儲積症 | Neuronal ceroid lipofuscinosis, CLN5-related | CLN5 | 1 in 317 | |
| CLN6基因相關-神經元蠟樣脂褐質儲積症 | Neuronal ceroid lipofuscinosis, CLN6-related | CLN6 | 1 in 261 | |
| CLN8基因相關-神經元蠟樣脂褐質儲積症 | Neuronal ceroid lipofuscinosis, CLN8-related | CLN8 | 1 in 349 | |
| 尤塞氏症候群第3A型 | Usher syndrome, type 3A | CLRN1 | <1 in 500 | |
| COL4A3基因相關亞伯氏症候群 | Alport syndrome, COL4A3-related | COL4A3 | 1 in 323 | |
| 肉鹼棕櫚醯基轉移酶缺乏第一型 | Carnitine palmitoyltransferase I deficiency | CPT1A | <1 in 500 | |
| 肉鹼棕櫚醯基轉移酶缺乏症第2型 | Carnitine palmitoyltransferase II deficiency | CPT2 | <1 in 500 | |
| 胱胺酸症 | Cystinosis | CTNS | 1 in 158 | |
| 緻密性成骨不全症 | Pycnodysostosis | CTSK | 1 in 439 | |
| 性聯遺傳慢性肉芽腫疾病 | Chronic granulomatous disease, X-linked | CYBB | 1 in 150000 | 男性版不檢測 |
| 原發性嬰幼兒型青光眼 | Primary congenital glaucoma | CYP1B1 | 1 in 74 | |
| 21-羥化酶缺乏引起之先天性腎上腺增生症 | Congenital adrenal hyperplasia (CAH) due to 21- hydroxylase deficiency | CYP21A2 | 1 in 61 | |
| 腦腱性黃瘤症 | Cerebrotendinous xanthomatosis | CYP27A1 | 1 in 115 | |
| 楓糖尿症第2型 | Maple syrup urine disease, type 2 | DBT | 1 in 321 | |
| 歐門氏症候群 | Omenn syndrome | DCLRE1C | <1 in 500 | |
| Smith-Lemli-Opitz 症候群 | Smith-Lemli-Opitz syndrome | DHCR7 | 1 in 100 | |
| 視網膜色素病變第59型 | Retinitis pigmentosa 59 | DHDDS | <1 in 500 | |
| 二氫硫辛醯胺脫氫酶缺乏症 | Dihydrolipoamide dehydrogenase deficiency | DLD | <1 in 500 | |
| 性聯遺傳杜興氏／貝克氏肌肉失養症 | Duchenne/Becker muscular dystrophy, X-linked | DMD | 1 in 4200 | 男性版不檢測 |
| DOK7相關肌無力症候群 | Congenital myasthenic syndrome, DOK7-related | DOK7 | 1 in 454 | |
| 二氫嘧啶脫氫酶缺乏症 | Dihydropyrimidine dehydrogenase deficiency | DPYD | 1 in 20 | |
| 腦白質病伴隨白質消失症第5型 | Leukoencephalopathy with vanishing white matter 5 | EIF2B5 | <1 in 500 | |
| 家族性自主神經失調症 | Familial dysautonomia | ELP1 | <1 in 500 | |
| 乙基丙二酸腦病變 | Ethylmalonic encephalopathy | ETHE1 | <1 in 500 | |
| 酪胺酸血症第1型 | Tyrosinemia, type I | FAH | 1 in 100 | |
| 范可尼氏貧血症C型 | Fanconi anemia, complementation group C | FANCC | <1 in 500 | |
| 延胡索酸酶缺乏症 | Fumarase deficiency | FH | <1 in 500 | |
| 福山型先天性肌肉失養症 | Fukuyama congenital muscular dystrophy | FKTN | <1 in 500 | |
| 肝醣儲積症第1型 | Glycogen storage disease, type Ia | G6PC1 | 1 in 177 | |
| 葡萄糖-六-磷酸鹽去氫酵素缺乏症 (蠶豆症) | Glucose-6-phosphate dehydrogenase deficiency | G6PD | 1 in 30 | 男性版不檢測 |
| 肝醣儲積症第2型(龐貝氏症) | Glycogen storage disease, type II / Pompe disease | GAA | 1 in 132 | |
| Krabbe氏症（球細胞腦白質失養症） | Krabbe disease | GALC | 1 in 150 | |
| 半乳糖血症 | Galactosemia | GALT | 1 in 110 | |
| 高雪氏症 | Gaucher disease | GBA | 1 in 153 | |
| 戊二酸血症第1型 | Glutaric acidemia, type I | GCDH | 1 in 112 | |
| 非症候群型遺傳性聽損第1型 | Nonsyndromic hearing loss and deafness (DFNB) 1 | GJB2 | 1 in 42 | |
| GLB1基因相關疾病 | GLB1-related disorders | GLB1 | 1 in 158 | |
| 甘氨酸腦病/非酮性高甘胺酸血症 | Glycine encephalopathy / Nonketotic hyperglycinemia | GLDC | 1 in 135 | |
| GNE肌病變 | GNE myopathy | GNE | <1 in 500 | |
| 黏脂質症第2型和第3型 | Mucolipidosis II and mucolipidosis III alpha/ beta | GNPTAB | 1 in 158 | |
| 原發性高草酸尿症第2型 | Primary hyperoxaluria, type II | GRHPR | <1 in 500 | |
| 長鏈3-羥酰基輔酶A脫氫酶缺乏症 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | HADHA | 1 in 138 | |
| 戴薩克斯症（家族性黑矇癡呆症） | Tay-Sachs disease | HEXA | 1 in 250 | |
| 山德霍夫症 | Sandhoff disease | HEXB | 1 in 278 | |
| 3-羥基-3-甲基戊二酸尿症 | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | HMGCL | <1 in 500 | |
| Hermansky-Pudlak氏症候群第3型 | Hermansky-Pudlak syndrome, type 3 | HPS3 | <1 in 500 | |
| D型雙功能蛋白缺乏症 | D-bifunctional protein deficiency | HSD17B4 | 1 in 158 | |
| 黏多醣症第1型 (賀勒氏症) | Mucopolysaccharidosis, type I / Hurler syndrome | IDUA | 1 in 158 | |
| 性聯遺傳遺傳嚴重免疫缺陷 | Severe combined immunodeficiency, X-linked | IL2RG | 1 in 69000 | 男性版不檢測 |
| 異戊酸血症 | Isovaleric acidemia | IVD | 1 in 250 | |
| LAMA3基因相關接合型表皮溶解水皰症 | Junctional epidermolysis bullosa, LAMA3-related | LAMA3 | <1 in 500 | |
| LAMB3基因相關接合型表皮溶解水皰症 | Junctional epidermolysis bullosa, LAMB3-related | LAMB3 | 1 in 407 | |
| LAMC2基因相關接合型表皮溶解水皰症 | Junctional epidermolysis bullosa, LAMC2-related | LAMC2 | <1 in 500 | |
| 第5型核基因粒線體複合體IV缺乏症/法國-加拿大 型亞急性壞死性腦脊髓病 | Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type | LRPPRC | <1 in 500 | |
| α型甘露糖症 | Alpha-mannosidosis | MAN2B1 | <1 in 500 | |
| 黏脂質症第4型 | Mucolipidosis IV | MCOLN1 | <1 in 500 | |
| 腦白質病伴隨皮層下囊腫 | Megalencephalic leukoencephalopathy with subcortical cysts | MLC1 | <1 in 500 | |
| 合併型甲基丙二酸尿症與高胱胺酸尿症cblC型/鈷 胺素C缺乏症 | Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency | MMACHC | 1 in 138 | |
| 先天性醣基化障礙第1B型 | Congenital disorder of glycosylation, type Ib | MPI | <1 in 500 | |
| 先天性巨核細胞缺乏血小板低下症 | Congenital amegakaryocytic thrombocytopenia | MPL | 1 in 415 | |
| 無β脂蛋白血症 | Abetalipoproteinemia | MTTP | <1 in 500 | |
| 尤塞氏症候群第1B型 | Usher syndrome, type 1B | MYO7A | 1 in 206 | |
| 奈梅亨破損症候群 | Nijmegen breakage syndrome | NBN | <1 in 500 | |
| 線狀體肌肉病變第2型 | Nemaline myopathy 2 | NEB | 1 in 224 | |
| 尼曼匹克症C1型 | Niemann-Pick disease, type C1 | NPC1 | 1 in 282 | |
| NPHP1基因相關腎元發育不全相關纖毛病 | NPHP1 nephronophthisis-related ciliopathies | NPHP1 | 1 in 202 | |
| 類固醇抗藥型腎病症候群第1型 | Steroid resistant nephrotic syndrome, type 1 | NPHS1 | 1 in 377 | |
| 類固醇抗藥型腎病症候群第2型 | Steroid-resistant nephrotic syndrome, type 2 | NPHS2 | <1 in 500 | |
| 性聯遺傳Lowe症候群 | Lowe syndrome, X-linked | OCRL | 1 in 375000 | 男性版不檢測 |
| 性聯遺傳鳥胺酸氨甲醯基轉移酶缺乏症 | Ornithine transcarbamylase deficiency, X-linked | OTC | 1 in 30000 | 男性版不檢測 |
| 苯丙氨酸羥化酶缺乏症 | Phenylalanine hydroxylase deficiency | PAH | 1 in 65 | |
| 丙酮酸酸羧化酶缺乏症 | Pyruvate carboxylase deficiency | PC | 1 in 250 | |
| PCCA基因相關丙酸血症 | Propionic acidemia, PCCA-related | PCCA | 1 in 224 | |
| PCCB基因相關丙酸血症 | Propionic acidemia, PCCB-related | PCCB | 1 in 224 | |
| 尤塞氏症候群第1F型 | Usher syndrome, type 1F | PCDH15 | 1 in 395 | |
| PEX1基因相關趙葦格氏症 | Zellweger spectrum disorders, PEX1-related | PEX1 | <1 in 500 | |
| PEX2基因相關Zellweger氏症候群 | Zellweger spectrum disorders, PEX2-related | PEX2 | <1 in 500 | |
| 肢端型點狀軟骨發育不良第1型 | Rhizomelic chondrodysplasia punctata, type 1 | PEX7 | <1 in 500 | |
| 磷酸甘油酸脫氫酶缺乏症 | Phosphoglycerate dehydrogenase deficiency | PHGDH | <1 in 500 | |
| 胎兒型體染色體隱性遺傳多囊性腎臟病 | Autosomal recessive polycystic kidney disease | PKHD1 | 1 in 144 | |
| PLA2G6基因相關神經退化性疾病 | PLA2G6-associated neurodegeneration | PLA2G6 | <1 in 500 | |
| 先天性醣基化障礙第1A型 | Congenital disorder of glycosylation, type Ia | PMM2 | 1 in 124 | |
| POLG基因相關疾病 | POLG-related disorders | POLG | 1 in 50 | |
| 先天性肌肉失養症伴隨醣基化功能缺陷A3型 | Muscular dystrophy-dystroglycanopathy, type A, 3 | POMGNT1 | 1 in 462 | |
| PPT1基因相關神經元蠟樣脂褐質儲積症 | Neuronal ceroid lipofuscinosis, PPT1-related | PPT1 | 1 in 368 | |
| 複合性腦下垂體激素缺乏症第2型 | Combined pituitary hormone deficiency, type 2 | PROP1 | 1 in 141 | |
| 6-丙酮醯四氫生物蝶呤合成酶缺乏症 | 6-pyruvoyl-tetrahydropterin synthase deficiency | PTS | <1 in 500 | |
| RAPSN基因相關先天性肌無力症候群 | Congenital myasthenic syndrome, RAPSN-related | RAPSN | 1 in 252 | |
| 軟骨－毛髮發育不良症 | Cartilage-hair hypoplasia | RMRP | <1 in 500 | |
| RTEL1基因相關先天性角化不全症 | Dyskeratosis congenita, RTEL1-related | RTEL1 | <1 in 500 | |
| 痙攣性共濟失調症（查爾瓦克斯-薩格奈型） | Spastic ataxia, Charlevoix-Saguenay type | SACS | <1 in 500 | |
| α1-抗胰蛋白酶缺乏症 | Alpha-1 antitrypsin deficiency | SERPINA1 | 1 in 38 | |
| 肢帶型肌肉失養症第3型 | Limb-girdle muscular dystrophy, type 3 | SGCA | <1 in 500 | |
| 肢帶型肌肉失養症第4型 | Limb-girdle muscular dystrophy, type 4 | SGCB | <1 in 500 | |
| 肢帶型肌肉失養症第5型 | Limb-girdle muscular dystrophy, type 5 | SGCG | 1 in 354 | |
| 黏多醣症第三A型/聖菲利柏氏症A型 | Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A | SGSH | 1 in 415 | |
| 胼胝體發育不全伴周邊神經病變 | Agenesis of the corpus callosum with peripheral neuropathy | SLC12A6 | <1 in 500 | |
| 游離唾液酸儲積症 | Free sialic acid storage disorders | SLC17A5 | <1 in 500 | |
| 原發性肉鹼缺乏症 | Carnitine deficiency, systemic primary | SLC22A5 | 1 in 200 | |
| Citrin缺乏症/瓜胺酸血症第2型 | Citrin deficiency / Citrullinemia, type II | SLC25A13 | <1 in 500 | |
| 鳥胺酸轉位酶缺乏症 | Ornithine translocase deficiency | SLC25A15 | <1 in 500 | |
| SLC26A2基因相關骨骼發育異常 | Skeletal dysplasia, SLC26A2-related | SLC26A2 | 1 in 158 | |
| Pendred症候群 | Pendred syndrome | SLC26A4 | 1 in 80 | |
| 關節彎曲,智能發展遲緩及癲癇發作 | Arthrogryposis, mental retardation, and seizures | SLC35A3 | <1 in 500 | |
| 肝醣儲積症第Ib/Iiw型 | Glycogen storage disease, type Ib / IIw | SLC37A4 | 1 in 354 | |
| 賴胺酸尿症蛋白不耐症 | Lysinuric protein intolerance | SLC7A7 | <1 in 500 | |
| 尼曼匹克症A/B型 | Niemann-Pick disease, types A/B | SMPD1 | 1 in 196 | |
| 多發性硫酸脂酶缺乏症 | Multiple sulfatase deficiency | SUMF1 | <1 in 500 | |
| 體染色體隱性遺傳魚鱗癬 | Autosomal recessive congenital ichthyosis | TGM1 | 1 in 301 | |
| 酪胺酸羥化酶缺乏症 | Tyrosine hydroxylase deficiency | TH | <1 in 500 | |
| Joubert 氏症候群第2型（家族性小腦蚓部發育不 全） | Joubert syndrome 2 | TMEM216 | <1 in 500 | |
| TPP1基因相關-神經元蠟樣脂褐質儲積症第2型 | Neuronal ceroid lipofuscinosis, TPP1-related | TPP1 | 1 in 314 | |
| 共濟失調合併維生素E缺乏症 | Ataxia with isolated vitamin E deficiency | TTPA | <1 in 500 | |
| 尤塞氏症候群第1C型 | Usher syndrome, type 1C | USH1C | 1 in 353 | |
| 尤塞氏綜合症第2A型 | Usher syndrome, type 2A | USH2A | 1 in 126 | |
| 性聯遺傳Wiskott–Aldrich症候群 | Wiskott-Aldrich syndrome, X-linked | WAS | 1 in 187500 | 男性版不檢測 |
v3.0 再增加的疾病（v3.0 共 611 項，含 v1.0、v2.0）
| 疾病名稱 | 英文名稱 | 基因 | 帶因率 | 備註 |
|---|---|---|---|---|
| Triple A症候群 | Triple A syndrome | AAAS | <1 in 500 | |
| GABA轉胺酶缺乏症 | GABA-transaminase deficiency | ABAT | <1 in 500 | |
| ABCA12基因相關先天性魚鱗癬 | Congenital ichthyosis, ABCA12-related | ABCA12 | <1 in 500 | |
| ABCA3基因相關肺表面活性劑代謝異常症 | Surfactant dysfunction, ABCA3-related | ABCA3 | 1 in 116 | |
| ABCC4基因相關疾病 | ABCA4-related disorders | ABCA4 | 1 in 45 | |
| 進行性家族性肝內膽汁滯留症第2型 | Progressive familial intrahepatic cholestasis 2 | ABCB11 | 1 in 158 | |
| 進行性家族性肝內膽汁滯留症第3型 | Progressive familial intrahepatic cholestasis 3 | ABCB4 | 1 in 194 | |
| 杜賓－強森症候群 | Dubin-Johnson syndrome | ABCC2 | 1 in 158 | |
| 彈性纖維假黃瘤 | Pseudoxanthoma elasticum | ABCC6 | 1 in 79 | |
| ACAD9相關粒線體複合物I缺乏症 | Mitochondrial complex I deficiency,ACAD9-related | ACAD9 | <1 in 500 | |
| β-酮硫解酶缺乏症 | Beta-ketothiolase deficiency | ACAT1 | 1 in 347 | |
| 過氧化體醯輔酶A氧化酶缺乏症 | Peroxisomal acyl-CoA oxidase deficiency | ACOX1 | <1 in 500 | |
| 丙二酸及甲基丙二酸綜合酸血症 | Combined malonic and methylmalonic aciduria | ACSF3 | 1 in 86 | |
| ADAMTSL4基因相關眼部疾病 | ADAMTSL4-related eye disorders | ADAMTSL4 | <1 in 500 | |
| 雙側額頂葉多小腦迴症 | Bilateral frontoparietal polymicrogyria | ADGRG1 | <1 in 500 | |
| 尤塞氏綜合症第2C型 | Usher syndrome, type 2C | ADGRV1 | 1 in 176 | |
| X染色體脆折症E型 | Fragile XE syndrome | AFF2 | 1 in 18750 | 男性版不檢測 |
| 近端型點狀軟骨發育不良第3型 | Rhizomelic chondrodysplasia punctata, type 3 | AGPS | <1 in 500 | |
| Joubert 氏症候群第3型 | Joubert syndrome 3 | AHI1 | 1 in 176 | |
| 氧化磷酸化缺失症第6型 | Combined oxidative phosphorylation deficiency 6 | AIFM1 | <1 in 500 | 男性版不檢測 |
| 萊伯氏先天性黑矇症第4型 | Leber congenital amaurosis 4 | AIPL1 | 1 in 387 | |
| 自體免疫多腺體症候群第1型 | Autoimmune polyglandular syndrome, type 1 | AIRE | 1 in 354 | |
| 吡哆醇依賴性癲癇症 | Pyridoxine-dependent epilepsy | ALDH7A1 | 1 in 158 | |
| 先天糖基化疾病第Ik型 | Congenital disorder of glycosylation, type Ik | ALG1 | <1 in 500 | |
| 發展性與癲癇性腦病變第36型 | Developmental and epileptic encephalopathy 36 | ALG13 | <1 in 750000 | 男性版不檢測 |
| 先天糖基化疾病第1C型 | Congenital disorder of glycosylation, type Ic | ALG6 | <1 in 500 | |
| 阿爾斯特倫症候群 | Alstrom syndrome | ALMS1 | <1 in 500 | |
| 伊莫斯隆德-格拉斯貝克症候群 2 型 | Imerslund-Gräsbeck syndrome 2 | AMN | <1 in 500 | |
| 體染色體隱性遺傳小腦萎縮症第10型 | Autosomal recessive spinocerebellar ataxia, type 10 | ANO10 | 1 in 93 | |
| MEDNIK症候群 | MEDNIK syndrome | AP1S1 | <1 in 500 | |
| Hermansky-Pudlak症候群第2型 | Hermansky-Pudlak syndrome, type 2 | AP3B1 | 1 in 158 | |
| 腎因型尿崩症 | Nephrogenic diabetes insipidus | AQP2 | <1 in 500 | |
| 雄激素不敏感症候群 | Androgen insensitivity syndrome | AR | 1 in 5000 | 男性版不檢測 |
| 精胺酸血症 | Argininemia | ARG1 | <1 in 500 | |
| oubert 氏症候群第8型 | Joubert syndrome 8 | ARL13B | <1 in 500 | |
| 巴德-畢德氏症候群第3型 | Bardet-Biedl syndrome 3 | ARL6 | <1 in 500 | |
| 黏多醣症第6型（馬洛托-拉米氏症） | Mucopolysaccharidosis, type VI /Maroteaux-Lamy syndrome | ARSB | 1 in 291 | |
| 性聯遺傳點狀軟骨發育不良第1型 | X-linked chondrodysplasia punctata 1 | ARSL | <1 in 500 | 男性版不檢測 |
| ARX基因相關性聯遺傳發育型障礙 | X-linked developmental disorders, ARX-related | ARX | 1 in 250000 | 男性版不檢測 |
| 法伯脂肪肉芽腫病 | Farber lipogranulomatosis | ASAH1 | <1 in 500 | |
| 天門冬醯胺合成缺乏症 | Asparagine synthetase deficiency | ASNS | <1 in 500 | |
| ATP6V1B1基因相關腎小管性酸中毒合併聽力損失 症 | Renal tubular acidosis and deafness, ATP6V1B1- related | ATP6V1B1 | <1 in 500 | |
| Menkes氏症候群 | Menkes disease | ATP7A | 1 in 26000 | 男性版不檢測 |
| 進行性家族性肝內膽汁滯留症第 1 型與良性復發性 肝內膽汁滯留症第 1 型 | Progressive familial intrahepatic cholestasis 1 and benign familial intrahepatic cholestasis 1 | ATP8B1 | 1 in 53 | |
| 性聯遺傳α地中海型貧血智力障礙症候群 | Alpha-thalassemia intellectual disability syndrome, X-linked | ATRX | <1 in 750000 | 男性版不檢測 |
| AVPR2基因相關疾病 | AVPR2-related disorders | AVPR2 | 1 in 63000 | 男性版不檢測 |
| Joubert 氏症候群第27型 | Joubert syndrome 27 | B9D1 | <1 in 500 | |
| Joubert 氏症候群第34型 | Joubert syndrome 34 | B9D2 | <1 in 500 | |
| 巴德-畢德氏症候群第12型 | Bardet-Biedl syndrome 12 | BBS12 | <1 in 500 | |
| 巴德-畢德氏症候群第4型 | Bardet-Biedl syndrome 4 | BBS4 | <1 in 500 | |
| 巴德-畢德氏症候群第5型 | Bardet-Biedl syndrome 5 | BBS5 | <1 in 500 | |
| 巴德-畢德氏症候群第7型 | Bardet-Biedl syndrome 7 | BBS7 | <1 in 500 | |
| 巴德-畢德氏症候群第9型 | Bardet-Biedl syndrome 9 | BBS9 | <1 in 500 | |
| 假性膽鹼酯酶缺乏症 | Pseudocholinesterase deficiency | BCHE | 1 in 53 | |
| Hermansky-Pudlak症候群第8型 | Hermansky-Pudlak syndrome, type 8 | BLOC1S3 | <1 in 500 | |
| Hermansky-Pudlak症候群第9型 | Hermansky-Pudlak syndrome, type 9 | BLOC1S6 | <1 in 500 | |
| 成骨不全症第13型 | Osteogenesis imperfecta, type XIII | BMP1 | <1 in 500 | |
| 范可尼氏貧血症J型 | Fanconi anemia, complementation group J | BRIP1 | 1 in 500 | |
| Bartter氏症候群第4型 | Bartter syndrome, type 4A | BSND | <1 in 500 | |
| 口腔－顏面－指（趾）發育異常症候群第14型 | Orofaciodigital syndrome, type XIV | C2CD3 | <1 in 500 | |
| 發展性與癲癇性腦病變第50型 | Developmental and epileptic encephalopathy 50 | CAD | <1 in 500 | |
| Desbuquois氏發育不全症第1型 | Desbuquois dysplasia, type I | CANT1 | <1 in 500 | |
| 兒茶酚胺敏感性多形性心室頻脈第2型 | Catecholaminergic polymorphic ventricular tachycardia, type 2 | CASQ2 | 1 in 224 | |
| 體染色體隱性遺傳智能發展障礙症候群 | Autosomal recessive intellectual developmental disorder, type 3 | CC2D1A | <1 in 500 | |
| Joubert 氏症候群第9型 | Joubert syndrome 9 | CC2D2A | <1 in 500 | |
| CDC103基因相關原發性纖毛運動障礙症 | Primary ciliary dyskinesia, CCDC103-related | CCDC103 | 1 in 217 | |
| CDC39基因相關原發性纖毛運動障礙症 | Primary ciliary dyskinesia, CCDC39-related | CCDC39 | 1 in 144 | |
| 先天性水腦症第1型 | Congenital hydrocephalus 1 | CCDC88C | 1 in 137 | |
| 進行性假性類風濕性骨發育不良症 | Progressive pseudorheumatoid dysplasia | CCN6 | <1 in 500 | |
| CD3D基因相關重度複合型免疫缺陷症 | Severe combined immunodeficiency, CD3D-related | CD3D | <1 in 500 | |
| CD3E基因相關嚴重複合型免疫缺陷症 | Severe combined immunodeficiency, CD3E-related | CD3E | <1 in 500 | |
| 高免疫球蛋白M症候群第3型 | Hyper-IgM syndrome, type 3 | CD40 | <1 in 500 | |
| 性聯遺傳高免疫球蛋白M症候群 | X-Linked hyper IgM syndrome | CD40LG | 1 in 52500 | 男性版不檢測 |
| CD59 介導性溶血性貧血 | CD59-mediated hemolytic anemia | CD59 | <1 in 500 | |
| Joubert 氏症候群第25型 | Joubert syndrome 25 | CEP104 | <1 in 500 | |
| Joubert 氏症候群第31型 | Joubert syndrome 31 | CEP120 | <1 in 500 | |
| CEP152基因相關疾病 | CEP152-related disorders | CEP152 | <1 in 500 | |
| CEP290相關萊伯氏先天性黑矇症 | Leber congenital amaurosis, CEP290-related / CEP290-related conditions | CEP290 | 1 in 185 | |
| Joubert 氏症候群第15型 | Joubert syndrome 15 | CEP41 | <1 in 500 | |
| 視網膜色素病變第26型 | Retinitis pigmentosa 26 | CERKL | 1 in 137 | |
| 性聯遺傳脈絡膜缺失症 | Choroideremia, X-linked | CHM | 1 in 25000 | 男性版不檢測 |
| 致死型多發性翼狀膜症候群 | Multiple pterygium syndrome, lethal type | CHRNG | 1 in 50 | |
| 尤塞氏綜合症第1J型 | Usher syndrome, type 1J | CIB2 | <1 in 500 | |
| 裸淋巴球症候群第2型 | Bare lymphocyte syndrome, type II | CIITA | <1 in 500 | |
| 先天性肌強直症 | Myotonia congenita | CLCN1 | 1 in 158 | |
| Dent氏病 | Dent disease | CLCN5 | <1 in 500 | 男性版不檢測 |
| CNGB3基因相關色彩感應失能症 | Achromatopsia, CNGB3-related | CNGB3 | 1 in 98 | |
| COL11A2基因相關疾病 | COL11A2-related disorders | COL11A2 | <1 in 500 | |
| COL17A1基因相關接合型表皮溶解水皰症 | Junctional epidermolysis bullosa, COL17A1-related | COL17A1 | <1 in 500 | |
| 史迪爾氏症候群 | Steel syndrome | COL27A1 | <1 in 500 | |
| COL4A4基因相關亞伯氏症候群 | Alport syndrome, COL4A4-related | COL4A4 | 1 in 353 | |
| COL4A5基因相關性聯遺傳亞伯氏症候群 | Alport syndrome, COL4A5-related, X-linked | COL4A5 | 1 in 47000 | 男性版不檢測 |
| COL7A1基因相關表皮溶解水皰症 | Dystrophic epidermolysis bullosa, COL7A1-related | COL7A1 | 1 in 370 | |
| COLQ基因相關先天性肌無力症候群 | Congenital myasthenic syndrome, COLQ-related | COLQ | 1 in 430 | |
| 核基因第 6 型粒線體呼吸鏈複合體 IV 缺乏症 | Mitochondrial complex IV deficiency, nuclear type 6 | COX15 | <1 in 500 | |
| Joubert 氏症候群第17型 | Joubert syndrome 17 | CPLANE1 | 1 in 423 | |
| 氨甲醯磷酸合成酶缺失症第1型 | Carbamoyl phosphate synthetase I deficiency | CPS1 | <1 in 500 | |
| CRB1基因相關視網膜失養症 | CRB1-related retinal dystrophies | CRB1 | 1 in 112 | |
| 先天性肌肉失養症伴隨醣基化功能缺陷A7型 | Muscular dystrophy-dystroglycanopathy, type A, 7 | CRPPA | 1 in 371 | |
| 成骨不全症第7型 | Osteogenesis imperfecta, type VII | CRTAP | <1 in 500 | |
| Joubert 氏症候群第21型 | Joubert syndrome 21 | CSPP1 | <1 in 500 | |
| 半乳糖唾液酸儲積症 | Galactosialidosis | CTSA | <1 in 500 | |
| CTSC基因相關疾病 | CTSC-related disorders | CTSC | 1 in 250 | |
| CTSD基因相關神經元蠟樣脂褐質儲積症 | Neuronal ceroid lipofuscinosis, CTSD-related | CTSD | <1 in 500 | |
| 慢性肉芽腫疾病第4型 | Chronic granulomatous disease 4 | CYBA | <1 in 500 | |
| CYP11A1基因相關先天性腎上腺功能不足 | Congenital adrenal insufficiency, CYP11A1-related | CYP11A1 | 1 in 114 | |
| 11-β-羥化酶缺乏引起之先天性腎上腺增生症 | Congenital adrenal hyperplasia (CAH) due to 11- beta-hydroxylase deficiency | CYP11B1 | 1 in 158 | |
| 皮質酮甲基氧化酶缺乏症 | Corticosterone methyloxidase deficiency | CYP11B2 | <1 in 500 | |
| 17-α-羥化酶缺乏引起之先天性腎上腺增生症 | Congenital adrenal hyperplasia (CAH) due to 17- alpha-hydroxylase deficiency | CYP17A1 | <1 in 500 | |
| 芳香化酶缺乏症 | Aromatase deficiency | CYP19A1 | <1 in 500 | |
| 維生素D依賴型佝僂症第1A型 | Vitamin D-dependent rickets, type 1A | CYP27B1 | 1 in 22 | |
| CYP7B1基因相關疾病 | CYP7B1-related disorders | CYP7B1 | 1 in 338 | |
| Woodhouse–Sakati症候群 | Woodhouse-Sakati syndrome | DCAF17 | <1 in 500 | |
| DCX基因相關疾病 | DCX-related disorders | DCX | <1 in 750000 | 男性版不檢測 |
| Warsaw染色體斷裂症候群 | Warsaw breakage syndrome | DDX11 | <1 in 500 | |
| DGAT1缺乏症 | DGAT1 deficiency | DGAT1 | <1 in 500 | |
| 脫氧鳥苷激酶缺乏症/第3型粒線體DNA耗竭症 | Deoxyguanosine kinase deficiency / Mitochondrial DNA depletion syndrome 3 | DGUOK | <1 in 500 | |
| 珀爾曼症候群 | Perlman syndrome | DIS3L2 | <1 in 500 | |
| 性聯遺傳先天性角化不全症 | Dyskeratosis congenita, X-linked | DKC1 | <1 in 750000 | 男性版不檢測 |
| 脊椎肋骨發育不全第1型 | Spondylocostal dysostosis 1 | DLL3 | 1 in 289 | |
| DNAH11基因相關原發性纖毛運動障礙症 | Primary ciliary dyskinesia, DNAH11-related | DNAH11 | 1 in 144 | |
| DNAH5基因相關原發性纖毛運動障礙症 | Primary ciliary dyskinesia, DNAH5-related | DNAH5 | 1 in 120 | |
| DNAI1基因相關原發性纖毛運動障礙症 | Primary ciliary dyskinesia, DNAI1-related | DNAI1 | 1 in 182 | |
| DNAI2基因相關原發性纖毛運動障礙症 | Primary ciliary dyskinesia, DNAI2-related | DNAI2 | <1 in 500 | |
| 免疫缺陷－著絲粒不穩定－面部異常症候群1型 | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | DNMT3B | <1 in 500 | |
| 甲狀腺激素生成障礙第6型 | Thyroid dyshormonogenesis 6 | DUOX2 | 1 in 55 | |
| 伴或不伴多指畸形的短肋胸廓發育不良 3 型 | Short-rib thoracic dysplasia 3 with or without polydactyly | DYNC2H1 | 1 in 67 | |
| 肢帶型肌肉失養症第2B型 | Limb-girdle muscular dystrophy, type 2B | DYSF | 1 in 311 | |
| 性聯遺傳少汗性外胚層增生不良症 | Hypohidrotic ectodermal dysplasia, X-linked | EDA | 1 in 3800 | 男性版不檢測 |
| Wolcott-Rallison 症候群 | Wolcott-Rallison syndrome | EIF2AK3 | <1 in 500 | |
| 腦白質病伴隨白質消失症第1型 | Leukoencephalopathy with vanishing white matter 1 | EIF2B1 | <1 in 500 | |
| 腦白質病伴隨白質消失症第2型 | Leukoencephalopathy with vanishing white matter 2 | EIF2B2 | <1 in 500 | |
| 腦白質病伴隨白質消失症第3型 | Leukoencephalopathy with vanishing white matter 3 | EIF2B3 | <1 in 500 | |
| 腦白質病伴隨白質消失症第4型 | Leukoencephalopathy with vanishing white matter 4 | EIF2B4 | <1 in 500 | |
| 埃勒斯-當洛斯症候群 | Emery-Dreifuss muscular dystrophy, X-linked | EMD | 1 in 250000 | 男性版不檢測 |
| EPG5基因相關疾病 | EPG5-related disorder | EPG5 | <1 in 500 | |
| ERCC2基因相關病症 | ERCC2-related conditions | ERCC2 | <1 in 500 | |
| 大腦-眼眶-臉部-骨骼異常症候群第1型/柯凱因氏 症候群第B型 | Cerebrooculofacioskeletal syndrome 1 / Cockayne syndrome, type B | ERCC6 | <1 in 500 | |
| 柯凱因氏症候群第A型 | Cockayne syndrome, type A | ERCC8 | <1 in 500 | |
| Roberts-SC型海豹肢症候群 | Roberts-SC phocomelia syndrome | ESCO2 | <1 in 500 | |
| 多重醯基輔酶A去氫酶缺乏症／戊二酸尿症第IIA型 | Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIA | ETFA | <1 in 500 | |
| 多重醯基輔酶A去氫酶缺乏症／戊二酸尿症第IIB型 | Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIB | ETFB | 1 in 408 | |
| 多重醯基輔酶A去氫酶缺乏症／戊二酸尿症第IIC型 | Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIC | ETFDH | 1 in 250 | |
| 埃利偉氏症候群 | Ellis-van Creveld syndrome | EVC | 1 in 345 | |
| 埃利偉氏症候群 | Ellis-van Creveld syndrome | EVC2 | 1 in 122 | |
| 腦橋小腦發育不全第 1B 型 | Pontocerebellar hypoplasia, type 1B | EXOSC3 | <1 in 500 | |
| 視網膜色素病變第25型 | Retinitis pigmentosa 25 | EYS | 1 in 129 | |
| 第十一凝血因子缺乏症 / C 型血友病 | Factor XI deficiency / Hemophilia C | F11 | 1 in 92 | |
| 第二凝血因子缺乏症 / 凝血酶原缺乏症 | Factor II deficiency / Prothrombin deficiency | F2 | 1 in 33 | |
| 第五凝血因子缺乏症 | Factor V deficiency | F5 | 1 in 12 | |
| 第八凝血因子缺乏症 / A 型血友病 | Factory VIII deficiency / Hemophilia A | F8 | 1 in 20000 | 男性版不檢測 |
| 第九凝血因子缺乏症 / B 型血友病 | Factor IX deficiency / Hemophilia B | F9 | 1 in 10000 | 男性版不檢測 |
| 視網膜色素病變第28型 | Retinitis pigmentosa 28 | FAM161A | 1 in 289 | |
| 范可尼氏貧血症A型 | Fanconi anemia, complementation group A | FANCA | 1 in 345 | |
| 范可尼氏貧血症B型 | Fanconi anemia, complementation group B | FANCB | <1 in 750000 | 男性版不檢測 |
| 范可尼氏貧血症D2型 | Fanconi anemia, complementation group D2 | FANCD2 | <1 in 500 | |
| 范可尼氏貧血症E型 | Fanconi anemia, complementation group E | FANCE | <1 in 500 | |
| 范可尼氏貧血症F型 | Fanconi anemia, complementation group F | FANCF | <1 in 500 | |
| 范可尼氏貧血症G型 | Fanconi anemia, complementation group G | FANCG | <1 in 500 | |
| 范可尼氏貧血症I型 | Fanconi anemia, complementation group I | FANCI | <1 in 500 | |
| 范可尼氏貧血症L型 | Fanconi anemia, complementation group L | FANCL | <1 in 500 | |
| 果糖-1,6-雙磷酸酶缺乏症 | Fructose-1,6-bisphosphatase deficiency | FBP1 | <1 in 500 | |
| 帕金森氏症第15型 | Parkinson disease 15 | FBXO7 | <1 in 500 | |
| FHL1基因相關疾病 | FHL1-related disorders | FHL1 | <1 in 750000 | 男性版不檢測 |
| 成骨不全症第 11 型 | Osteogenesis imperfecta, type XI | FKBP10 | <1 in 500 | |
| 肢帶型肌肉失養症第2I型 /先天性肌肉失養症伴隨 醣基化功能缺陷A5型 | Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy, type A, 5 | FKRP | 1 in 158 | |
| 三甲胺尿症 | Trimethylaminuria | FMO3 | 1 in 139 | |
| FOXN1基因相關嚴重複合型免疫缺陷症 | Severe combined immunodeficiency, FOXN1-related | FOXN1 | <1 in 500 | |
| 性聯遺傳免疫失調－多內分泌腺病－腸病症候群 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | FOXP3 | <1 in 750000 | 男性版不檢測 |
| 第19型核基因型粒線體呼吸鏈複合體I缺乏症 | Mitochondrial complex I deficiency, nuclear type 19 | FOXRED1 | <1 in 500 | |
| Fraser症候群第1型 | Fraser syndrome, type 1 | FRAS1 | 1 in 316 | |
| Fraser症候群第2型 | Fraser syndrome, type 2 | FREM2 | <1 in 500 | |
| 岩糖酵素缺乏症(儲積症) | Fucosidosis | FUCA1 | <1 in 500 | |
| 弗里德賴希共濟失調症 | Friedreich ataxia | FXN | 1 in 250 | |
| G6PC3 缺乏症 | G6PC3 deficiency | G6PC3 | <1 in 500 | |
| 半乳糖血症第3型/半乳糖異構酶缺乏症 | Galactosemia, type III / Galactose epimerase deficiency | GALE | 1 in 132 | |
| 半乳糖激酶缺乏症 | Galactosemia, type II / Galactokinase deficiency | GALK1 | 1 in 112 | |
| 黏多醣症第4型/Morquio症候群 | Mucopolysaccharidosis, type IVA / Morquio syndrome | GALNS | 1 in 307 | |
| 高磷血症家族性腫瘤性鈣質沉著症 | Hyperphosphatemic familial tumoral calcinosis | GALNT3 | <1 in 500 | |
| 胍基乙酸甲基轉移酶缺乏症 | Guanidinoacetate methyltransferase deficiency | GAMT | <1 in 500 | |
| 精胺酸甘胺酸胺基轉移酶缺乏症 | Arginine:glycine amidinotransferase deficiency | GATM | <1 in 500 | |
| 肝醣儲積症第4型/成人型葡萄糖多聚體病 | Glycogen storage disease, type IV / Adult polyglucosan body disease | GBE1 | 1 in 387 | |
| GCDH1基因相關疾病 | GCH1-related disorders | GCH1 | <1 in 500 | |
| GDF5基因相關疾病 | GDF5-related disorders | GDF5 | <1 in 500 | |
| 結合性氧化磷酸化缺乏症第1型 | Combined oxidative phosphorylation deficiency 1 | GFM1 | <1 in 500 | |
| 萊倫氏症候群 | Laron syndrome | GHR | 1 in 167 | |
| 性聯遺傳進行性腓骨肌萎縮症 | Charcot-Marie-Tooth disease, type 1X | GJB1 | 1 in 7000 | 男性版不檢測 |
| 法布瑞氏症 | Fabry disease, X-linked | GLA | 1 in 1500 | 男性版不檢測 |
| 致死先天性攣縮症候群第1型 | Lethal congenital contracture syndrome 1 | GLE1 | <1 in 500 | |
| 肢近端型點狀軟骨發育不良第2型 | Rhizomelic chondrodysplasia punctata, type 2 | GNPAT | <1 in 500 | |
| 黏脂質症第三型 Gamma | Mucolipidosis III gamma | GNPTG | <1 in 500 | |
| 黏多醣症第 IIID 型/聖菲利柏氏症 D 型 | Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D | GNS | <1 in 500 | |
| 老年樣皮膚營養不良及骨發育不良 | Geroderma osteodysplastica | GORAB | <1 in 500 | |
| 伯納德－蘇里爾症候群第A型 | Bernard-Soulier syndrome, type A | GP1BA | <1 in 500 | |
| 伯納德－蘇里爾症候群第C型 | Bernard-Soulier syndrome, type C | GP9 | <1 in 500 | |
| Fraser症候群第3型 | Fraser syndrome, type 3 | GRIP1 | 1 in 83 | |
| 麩胱甘肽合成酶缺乏症 | Glutathione synthetase deficiency | GSS | <1 in 500 | |
| 萊伯氏先天性黑矇症第1型 | Leber congenital amaurosis 1 | GUCY2D | 1 in 200 | |
| 黏多醣症第7型/Sly症候群 | Mucopolysaccharidosis, type VII / Sly syndrome | GUSB | <1 in 500 | |
| 3-羥醯基輔酶A去氫酶缺乏症 | 3-hydroxyacyl-CoA dehydrogenase deficiency | HADH | <1 in 500 | |
| HADHB基因相關粒線體三功能蛋白缺乏症 | Mitochondrial trifunctional protein deficiency, HADHB-related | HADHB | 1 in 146 | |
| 遺傳性血鐵沉積症（血色素沉著病）第2B型 | Hereditary hemochromatosis, type 2B | HAMP | <1 in 500 | |
| HAX1基因相關先天性嗜中性白血球減少症 | Congenital neutropenia, HAX1-related | HAX1 | <1 in 500 | |
| 甲基丙二酸血症與同型半胱氨酸尿症 cblX 型 | Methylmalonic aciduria and homocystinuria, cblX type | HCFC1 | <1 in 750000 | 男性版不檢測 |
| 黑尿症 | Alkaptonuria | HGD | 1 in 250 | |
| 黏多醣症第3C型（聖菲利柏氏症） | Mucopolysaccharidosis, type IIIC / Sanfilippo syndrome C | HGSNAT | 1 in 482 | |
| 遺傳性血鐵沉積症（血色素沉著病）第2型 | Hereditary hemochromatosis, type 2 | HJV | <1 in 500 | |
| 多發性羧化酶缺乏症 | Holocarboxylase synthetase deficiency | HLCS | <1 in 500 | |
| 第一型血基質氧化酶缺乏症 | Heme oxygenase 1 deficiency | HMOX1 | <1 in 500 | |
| 原發性高草酸尿症第3型 | Primary hyperoxaluria, type III | HOGA1 | 1 in 309 | |
| 酪胺酸血症第3型 | Tyrosinemia, type III | HPD | <1 in 500 | |
| HPRT1基因相關疾病 | HPRT1-related disorders | HPRT1 | 1 in 285000 | 男性版不檢測 |
| Hermansky-Pudlak氏症候群第1型 | Hermansky-Pudlak syndrome, type 1 | HPS1 | <1 in 500 | |
| Hermansky-Pudlak氏症候群第4型 | Hermansky-Pudlak syndrome, type 4 | HPS4 | <1 in 500 | |
| Hermansky-Pudlak氏症候群第5型 | Hermansky-Pudlak syndrome, type 5 | HPS5 | <1 in 500 | |
| Hermansky-Pudlak氏症候群第6型 | Hermansky-Pudlak syndrome, type 6 | HPS6 | <1 in 500 | |
| HSD10 疾病 | HSD10 disease | HSD17B10 | <1 in 750000 | 男性版不檢測 |
| 17-β-羥基類固醇脫氫酶缺乏症第3型 | 17-beta-hydroxysteroid dehydrogenase deficiency, type III | HSD17B3 | <1 in 500 | |
| 3-β-羥基類固醇脫氫酶缺乏引起之先天性腎上腺增 生第2型 | 3-beta-hydroxysteroid dehydrogenase deficiency, type II | HSD3B2 | <1 in 500 | |
| 黏多醣症第9型/玻尿酸酵素缺乏症 | Mucopolysaccharidosis, type IX / Hyaluronidase deficiency | HYAL1 | <1 in 500 | |
| 水腦致死性症候群 | Hydrolethalus syndrome | HYLS1 | 1 in 455 | |
| 黏多醣症第2型（韓特氏症） | Mucopolysaccharidosis, type II / Hunter syndrome | IDS | 1 in 60000 | 男性版不檢測 |
| IGHMBP2基因相關疾病 | IGHMBP2-related disorders | IGHMBP2 | <1 in 500 | |
| IKBKB基因相關嚴重複合型免疫缺陷症 | Severe combined immunodeficiency, IKBKB-related | IKBKB | <1 in 500 | |
| IL7R基因相關嚴重複合型免疫缺陷症 | Severe combined immunodeficiency, IL7R-related | IL7R | 1 in 388 | |
| Joubert 氏症候群第1型 | Joubert syndrome 1 | INPP5E | 1 in 264 | |
| 腎單位腎癆第2型 | Nephronophthisis 2 | INVS | 1 in 373 | |
| Senior-Løken症候群第5型 | Senior-Loken syndrome 5 | IQCB1 | <1 in 500 | |
| ITGA6基因相關接合型表皮溶解水皰症 | Junctional epidermolysis bullosa, ITGA6-related | ITGA6 | 1 in 159 | |
| ITGB3基因相關疾病 | ITGB3-related disorders | ITGB3 | <1 in 500 | |
| ITGB4基因相關接合型表皮溶解水皰症 | Junctional epidermolysis bullosa, ITGB4-related | ITGB4 | <1 in 500 | |
| JAK3基因相關嚴重複合型免疫缺陷症 | Severe combined immunodeficiency, JAK3-related | JAK3 | 1 in 299 | |
| 巴特症候群第2型 | Bartter syndrome, type 2 | KCNJ1 | <1 in 500 | |
| KCNJ11基因相關家族性高胰島素血症 | Familial hyperinsulinism, KCNJ11-related | KCNJ11 | <1 in 500 | |
| L1症候群 | L1 syndrome | L1CAM | 1 in 22500 | 男性版不檢測 |
| LAMA2基因相關肌肉失養症 | LAMA2 muscular dystrophy | LAMA2 | 1 in 87 | |
| 先天性肌肉失養症伴隨醣基化功能缺陷A6型 | Muscular dystrophy-dystroglycanopathy, type A, 6 | LARGE1 | <1 in 500 | |
| 萊伯氏先天性黑矇症第5型 | Leber congenital amaurosis 5 | LCA5 | <1 in 500 | |
| LDLR基因相關家族性高膽固醇血症 | Familial hypercholesterolemia, LDLR-related | LDLR | <1 in 500 | |
| LDLRAP1基因相關家族性高膽固醇血症 | Familial hypercholesterolemia, LDLRAP1-related | LDLRAP1 | <1 in 500 | |
| 結合性腦下垂體激素缺乏症第3型 | Combined pituitary hormone deficiency, type 3 | LHX3 | <1 in 500 | |
| Stuve-Wiedemann 症候群 | Stuve-Wiedemann syndrome | LIFR | <1 in 500 | |
| LIG4症候群 | LIG4 syndrome | LIG4 | <1 in 500 | |
| 溶酶體酸性脂肪酶缺乏症 | Lysosomal acid lipase deficiency | LIPA | <1 in 500 | |
| 甲基丙二酸尿症併高胱胺酸血症cblF型 | Methylmalonic aciduria and homocystinuria, cblF type | LMBRD1 | <1 in 500 | |
| 非症候群型遺傳性聽損第77型 | Nonsyndromic hearing loss and deafness (DFNB) 77 | LOXHD1 | <1 in 500 | |
| 脂蛋白解脂酶缺乏症 | Lipoprotein lipase deficiency | LPL | <1 in 500 | |
| LRAT基因相關疾病 | LRAT-related disorders | LRAT | <1 in 500 | |
| Donnai–Barrow症候群 | Donnai-Barrow syndrome | LRP2 | 1 in 213 | |
| Chediak-Higashi症候群 | Chediak-Higashi syndrome | LYST | <1 in 500 | |
| 視網膜色素病變第62型 | Retinitis pigmentosa 62 | MAK | <1 in 500 | |
| Beta-甘露糖症 | Beta-mannosidosis | MANBA | <1 in 500 | |
| 3-甲基巴豆醯輔酵素羧化酵素缺乏症第1型 | 3-methylcrotonyl-CoA carboxylase 1 deficiency | MCCC1 | 1 in 147 | |
| 3-甲基巴豆醯輔酵素羧化酵素缺乏症第2型 | 3-methylcrotonyl-CoA carboxylase 2 deficiency | MCCC2 | 1 in 120 | |
| 甲基丙二醯輔酶A表異構酶缺乏症 | Methylmalonyl-CoA epimerase deficiency | MCEE | <1 in 500 | |
| 體染色體隱性原發性小頭症第1型 | Autosomal recessive primary microcephaly 1 | MCPH1 | 1 in 146 | |
| MECR基因相關神經系統疾病 | MECR-related neurologic disorder | MECR | <1 in 500 | |
| 嬰兒期大腦與小腦萎縮症 | Infantile cerebral and cerebellar atrophy | MED17 | <1 in 500 | |
| 家族性地中海熱 | Familial Mediterranean fever | MEFV | 1 in 115 | |
| 脊椎胸廓發育不良與脊椎肋骨發育不全症第2型 | Spondylothoracic dysostosis and spondylocostal dysostosis 2 | MESP2 | 1 in 224 | |
| MFSD8基因相關神經元蠟樣脂褐質儲積症 | Neuronal ceroid lipofuscinosis, MFSD8-related | MFSD8 | <1 in 500 | |
| 性聯遺傳Opitz G/BBB症候群 | X-linked Opitz G/BBB syndrome | MID1 | 1 in 500000 | 男性版不檢測 |
| 巴爾代－畢德症候群第6型 | Bardet-Biedl syndrome 6 | MKKS | 1 in 219 | |
| MKS1基因相關疾病 | MKS1-related disorders | MKS1 | 1 in 260 | |
| 丙二醯輔酶A脫羧酶缺乏症 | Malonyl-CoA decarboxylase deficiency | MLYCD | <1 in 500 | |
| MMAA基因相關甲基丙二酸血症 | Methylmalonic aciduria, MMAA-related | MMAA | 1 in 316 | |
| MMAB基因相關甲基丙二酸血症 | Methylmalonic aciduria, MMAB-related | MMAB | 1 in 456 | |
| 合併型甲基丙二酸尿症與高胱胺酸尿症cblD型/鈷 胺素D缺乏症 | Combined methylmalonic aciduria and homocystinuria, cblD type / Cobalamin D deficiency | MMADHC | <1 in 500 | |
| MMUT基因相關甲基丙二酸血症 | Methylmalonic aciduria, MMUT-related | MMUT | 1 in 383 | |
| 鉬輔酶缺乏症A型 | Molybdenum cofactor deficiency of complementation group A | MOCS1 | <1 in 500 | |
| 鉬輔酶缺乏症B型 | Molybdenum cofactor deficiency of complementation group B | MOCS2 | 1 in 236 | |
| 粒線體DNA缺乏症候群第6型（肝腦病變型） | MPV17-related mitochondrial DNA (mtDNA) maintenance defect | MPV17 | <1 in 500 | |
| 類共濟失調性微血管擴張症 | Ataxia-telangiectasia-like disorder 1 | MRE11 | <1 in 500 | |
| 亞甲基四氫葉酸還原酶（MTHFR）缺乏症 | Homocystinuria caused by methylenetetrahydrofolate reductase (MTHFR) deficiency | MTHFR | 1 in 158 | |
| 性聯遺傳肌小管肌病變 | X-linked myotubular myopathy | MTM1 | <1 in 750000 | 男性版不檢測 |
| 高胱胺酸尿症合併巨芽細胞貧血cblG型 | Homocystinuria-megaloblastic anemia, cblG type | MTR | 1 in 224 | |
| 高胱胺酸尿症cblE型 | Homocystinuria, type cblE | MTRR | <1 in 500 | |
| MUSK相關先天性肌無力症候群 | Congenital myasthenic syndrome, MUSK-related | MUSK | <1 in 500 | |
| 甲羥戊酸激酶缺乏症/高IgD症候群 | Mevalonic aciduria / Hyper-IgD syndrome | MVK | 1 in 167 | |
| 非症候群型遺傳性聽損第3型 | Nonsyndromic hearing loss and deafness (DFNB) 3 | MYO15A | 1 in 117 | |
| Schindler疾病 | Schindler disease | NAGA | 1 in 94 | |
| 黏多醣症第IIIB型/Sanfilippo症候群B型 | Mucopolysaccharidosis, type IIIB / Sanfilippo syndrome B | NAGLU | <1 in 500 | |
| N-乙醯穀胺酸合成酶缺乏症 | N-acetylglutamate synthase deficiency | NAGS | <1 in 500 | |
| 慢性肉芽腫症第2型 | Chronic granulomatous disease 2 | NCF2 | 1 in 500 | |
| 進行性腓骨肌萎縮症第4D型 | Charcot-Marie-Tooth disease, type 4D | NDRG1 | <1 in 500 | |
| 第10型核基因型粒線體複合體I缺乏症 | Mitochondrial complex I deficiency,nuclear type 10 | NDUFAF2 | <1 in 500 | |
| 第16型核基因型粒線體複合體I缺乏症 7/10 | Mitochondrial complex I deficiency,nuclear type 16 | NDUFAF5 | <1 in 500 | |
| 第17型核基因型粒線體複合體I缺乏症 | Mitochondrial complex I deficiency,nuclear type 17 | NDUFAF6 | <1 in 500 | |
| 第1型核基因型粒線體複合體I缺乏症 | Mitochondrial complex I deficiency,nuclear type 1 | NDUFS4 | 1 in 423 | |
| 第9型核基因型粒線體複合體I缺乏症 | Mitochondrial complex I deficiency,nuclear type 9 | NDUFS6 | <1 in 500 | |
| 第3型核基因型粒線體複合體I缺乏症 | Mitochondrial complex I deficiency,nuclear type 3 | NDUFS7 | <1 in 500 | |
| 第4型核基因型粒線體複合體I缺乏症 | Mitochondrial complex I deficiency,nuclear type 4 | NDUFV1 | <1 in 500 | |
| 唾液酸儲積症 | Sialidosis | NEU1 | <1 in 500 | |
| 先天性醣基化障礙第1型 | Congenital disorder of deglycosylation, type 1 | NGLY1 | 1 in 274 | |
| 尼曼匹克症C2型 | Niemann-Pick disease, type C2 | NPC2 | <1 in 500 | |
| NPHP3基因相關腎元發育不全相關纖毛病 | NPHP3 nephronophthisis-related ciliopathies | NPHP3 | <1 in 500 | |
| NPHP4基因相關腎元發育不全相關纖毛病 | NPHP4 nephronophthisis-related ciliopathies | NPHP4 | <1 in 500 | |
| 性聯遺傳先天性腎上腺發育不良 | X-linked congenital adrenal hypoplasia | NR0B1 | 1 in 52500 | 男性版不檢測 |
| 增強型S-圓錐症候群 | Enhanced S-cone syndrome | NR2E3 | 1 in 204 | |
| 肺部疾病合併免疫缺陷與染色體斷裂症候群 | Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) | NSMCE3 | <1 in 500 | |
| 先天性痛不敏感症合併無汗症 | Congenital insensitivity to pain with anhidrosis | NTRK1 | <1 in 500 | |
| 鳥胺酸胺基轉移酶缺乏症 | Ornithine aminotransferase deficiency | OAT | <1 in 500 | |
| 眼睛皮膚白化症第2型 | Oculocutaneous albinism, type II | OCA2 | 1 in 76 | |
| 3-甲基戊二酸血症第3型/Costeff 症候群 | 3-methylglutaconic aciduria, type III / Costeff syndrome | OPA3 | <1 in 500 | |
| OSTM1基因相關骨質石化症 | Osteopetrosis, OSTM1-related | OSTM1 | <1 in 500 | |
| 非症候群型遺傳性聽損第22型 | Nonsyndromic hearing loss and deafness (DFNB) 22 | OTOA | <1 in 500 | |
| 非症候群型遺傳性聽損第9型 | Nonsyndromic hearing loss and deafness (DFNB) 9 | OTOF | 1 in 96 | |
| 成骨不全症第 8 型 | Osteogenesis imperfecta, type VIII | P3H1 | <1 in 500 | |
| 泛酸鹽激酶關聯之神經退化性疾病 | Pantothenate kinase-associated neurodegeneration | PANK2 | 1 in 289 | |
| 喋呤甲醇胺脫水酶缺乏症 | Pterin-4 alpha-carbinolamine dehydratase (PCD) deficiency | PCBD1 | <1 in 500 | |
| 原始侏儒症第2型 | Microcephalic osteodysplastic primordial dwarfism, type II | PCNT | <1 in 500 | |
| 丙酮酸鹽脫氫酶缺乏症E1-alpha型 | Pyruvate dehydrogenase E1-alpha deficiency | PDHA1 | <1 in 750000 | 男性版不檢測 |
| 丙酮酸鹽脫氫酶缺乏症E1-beta型 | Pyruvate dehydrogenase E1-beta deficiency | PDHB | <1 in 500 | |
| 脯氨酸肽酶缺乏症 | Prolidase deficiency | PEPD | 1 in 242 | |
| 第12型核基因粒線體複合體IV缺乏症 | Mitochondrial complex IV deficiency, nuclear type 12 | PET100 | 1 in 452 | |
| PEX10基因相關Zellweger氏症候群 | Zellweger spectrum disorders, PEX10-related | PEX10 | 1 in 406 | |
| PEX12基因相關Zellweger氏症候群 | Zellweger spectrum disorders, PEX12-related | PEX12 | <1 in 500 | |
| PEX13基因相關趙葦格氏症 | Zellweger spectrum disorder, PEX13-related | PEX13 | <1 in 500 | |
| PEX16基因相關趙葦格氏症 | Zellweger spectrum disorder, PEX16-related | PEX16 | <1 in 500 | |
| PEX26基因相關趙葦格氏症 | Zellweger spectrum disorders, PEX26-related | PEX26 | <1 in 500 | |
| PEX5基因相關趙葦格氏症 | Zellweger spectrum disorder, PEX5-related | PEX5 | 1 in 408 | |
| PEX6基因相關Zellweger氏症候群 | Zellweger spectrum disorders, PEX6-related | PEX6 | 1 in 280 | |
| 肝醣儲積症第7型 | Glycogen storage disease, type VII | PFKM | <1 in 500 | |
| PGM3基因相關醣基化先天異常/免疫缺陷症第23 型 | PGM3-congenital disorder of glycosylation / Immunodeficiency 23 | PGM3 | <1 in 500 | |
| 肝醣儲積症Ixb型 | Glycogen storage disease, type IXb | PHKB | <1 in 500 | |
| 肝醣儲積症Ixc型 | Glycogen storage disease, type IXc | PHKG2 | <1 in 500 | |
| Refsum病 | Refsum disease | PHYH | <1 in 500 | |
| PIGN基因相關疾病 | PIGN-related disorders | PIGN | <1 in 500 | |
| 非症候群型遺傳性聽損第59型 | Nonsyndromic hearing loss and deafness (DFNB) 59 | PJVK | <1 in 500 | |
| 類固醇抗藥型腎病症候群第3型 | Steroid-resistant nephrotic syndrome, type 3 | PLCE1 | <1 in 500 | |
| PLEKHG5基因相關疾病 | PLEKHG5-related disorders | PLEKHG5 | <1 in 500 | |
| PLOD1基因相關脊柱後側彎型Ehlers-Danlos症候 群 | PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome | PLOD1 | 1 in 158 | |
| PLP1基因相關疾病 | PLP1-related disorders | PLP1 | 1 in 37500 | 男性版不檢測 |
| 吡哆胺5′-磷酸氧化酶缺乏症 | Pyridoxamine 5’-phosphate oxidase deficiency | PNPO | <1 in 500 | |
| 色素性乾皮症變異型（XP-V） | Xeroderma pigmentosum, variant type (XP-V) | POLH | 1 in 37500 | |
| 先天性肌肉失養症伴隨醣基化功能缺陷A1型 | Muscular dystrophy-dystroglycanopathy, type A, 1 | POMT1 | 1 in 275 | |
| 先天性肌肉失養症伴隨醣基化功能缺陷A2型 | Muscular dystrophy-dystroglycanopathy, type A, 2 | POMT2 | 1 in 465 | |
| 細胞色素P450氧化還原酶缺乏症 | Cytochrome P450 oxidoreductase deficiency | POR | 1 in 370 | |
| 複合性或單一性腦下垂體激素缺乏症第1型 | Combined or isolated pituitary hormone deficiency, type 1 | POU1F1 | <1 in 500 | |
| 視網膜色素病變第36型 | Retinitis pigmentosa 36 | PRCD | <1 in 500 | |
| 角膜脆弱症候群第2型 | Brittle cornea syndrome 2 | PRDM5 | <1 in 500 | |
| 家族性噬血性淋巴組織細胞增生症第2型 | Familial hemophagocytic lymphohistiocytosis 2 | PRF1 | <1 in 500 | |
| PRPS1基因相關症狀 | PRPS1-related disorders | PRPS1 | 1 in 500000 | 男性版不檢測 |
| Saposin B缺乏型異染性腦白質失養症 | Metachromatic leukodystrophy due to saposin B deficiency | PSAP | <1 in 500 | |
| PTPRC基因相關嚴重複合型免疫缺陷症 | Severe combined immunodeficiency, PTPRC-related | PTPRC | <1 in 500 | |
| 肌病變合併乳酸性酸中毒及鐵粒幼紅血球性貧血 | Myopathy, lactic acidosis, and sideroblastic anemia | PUS1 | <1 in 500 | |
| 肝醣儲積症第5型 | Glycogen storage disease, type V | PYGM | 1 in 191 | |
| 二氫蝶啶還原酶缺乏症 | Dihydropteridine reductase (DHPR) deficiency | QDPR | <1 in 500 | |
| 卡本特氏症候群 | Carpenter syndrome | RAB23 | <1 in 500 | |
| RAG1相關嚴重複合型免疫缺陷症 | Severe combined immunodeficiency, RAG1-related | RAG1 | 1 in 245 | |
| RAG2相關嚴重複合型免疫缺陷症 | Severe combined immunodeficiency, RAG2-related | RAG2 | <1 in 500 | |
| 橋腦小腦發育不全症第6型 | Pontocerebellar hypoplasia, type 6 | RARS2 | <1 in 500 | |
| 萊伯氏先天性黑矇症第13型 | Leber congenital amaurosis 13 | RDH12 | 1 in 456 | |
| RLBP1基因相關視網膜病變 | RLBP1-related retinopathies | RLBP1 | 1 in 296 | |
| Aicardi–Goutières症候群第4型 | Aicardi-Goutieres syndrome 4 | RNASEH2A | <1 in 500 | |
| Aicardi–Goutières症候群第2型 | Aicardi-Goutieres syndrome 2 | RNASEH2B | <1 in 500 | |
| Aicardi-Goutieres症候群第3型 | Aicardi-Goutieres syndrome 3 | RNASEH2C | <1 in 500 | |
| 視網膜色素病變第2型 | Retinitis pigmentosa 2 | RP2 | 1 in 58000 | 男性版不檢測 |
| 萊伯氏先天性黑矇症第2型 | Leber congenital amaurosis 2 | RPE65 | 1 in 228 | |
| 視網膜色素病變第3型 | Retinitis pigmentosa 3 | RPGR | 1 in 20000 | 男性版不檢測 |
| RPGRIP1L基因相關纖毛病 | Ciliopathies, RPGRIP1L-related | RPGRIP1L | 1 in 259 | |
| 性聯遺傳先天性視網膜裂損症 | Juvenile retinoschisis, X-linked | RS1 | 1 in 2500 | 男性版不檢測 |
| 先天性肌肉失養症伴隨醣基化功能缺陷A10型 | Muscular dystrophy-dystroglycanopathy, type A, 10 | RXYLT1 | <1 in 500 | |
| RYR1基因相關疾病 | RYR1-related disorders | RYR1 | 1 in 150 | |
| 正常血磷型家族性腫瘤樣鈣化症 | Normophosphatemic familial tumoral calcinosis | SAMD9 | <1 in 500 | |
| Aicardi-Goutieres症候群第5型 | Aicardi-Goutieres syndrome 5 | SAMHD1 | <1 in 500 | |
| 史黛氏症 | Shwachman-Diamond syndrome | SBDS | 1 in 145 | |
| 動作性肌陣攣－腎衰竭症候群 | Action myoclonus renal failure syndrome | SCARB2 | <1 in 500 | |
| 第2型核基因型粒線體複合體 IV缺乏症 | Mitochondrial complex IV deficiency, nuclear type 2 | SCO2 | 1 in 149 | |
| 先天性紅血球生成異常性貧血第二型 | Congenital dyserythropoietic anemia, type II | SEC23B | <1 in 500 | |
| 進行性小腦大腦萎縮症 | Progressive cerebello-cerebral atrophy | SEPSECS | <1 in 500 | |
| 肢帶型肌肉失養症第6型 | Limb-girdle muscular dystrophy, type 6 | SGCD | <1 in 500 | |
| 髮－肝－腸症候群第2型 | Trichohepatoenteric syndrome 2 | SKIC2 | <1 in 500 | |
| 巴特症候群第1型 | Bartter syndrome, type 1 | SLC12A1 | 1 in 360 | |
| 吉特曼症候群 | Gitelman syndrome | SLC12A3 | 1 in 100 | |
| 硫胺素反應性巨芽細胞貧血症候群 | Thiamine-responsive megaloblastic anemia syndrome | SLC19A2 | <1 in 500 | |
| 生物素-硫胺素反應性基底核疾病 | Biotin-thiamine-responsive basal ganglia disease | SLC19A3 | 1 in 120 | |
| 合併胼胝體變薄與進行性小頭症之痙攣性四肢麻痺 症候群 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | SLC1A4 | <1 in 500 | |
| 肉鹼醯基肉鹼轉位酶缺乏症 | Carnitine-acylcarnitine translocase deficiency | SLC25A20 | <1 in 500 | |
| 先天性分泌性氯化物腹瀉第1型 | Congenital secretory chloride diarrhea 1 | SLC26A3 | <1 in 500 | |
| 早產兒魚鱗癬症候群 | Ichthyosis prematurity syndrome | SLC27A4 | <1 in 500 | |
| 黃斑部發育不全第2型 | Foveal hypoplasia 2 | SLC38A8 | <1 in 500 | |
| 腸病變性肢端皮膚炎 | Acrodermatitis enteropathica | SLC39A4 | 1 in 354 | |
| 眼皮膚白化症第4型 | Oculocutaneous albinism, type IV | SLC45A2 | 1 in 158 | |
| 角膜失養症和感音性失聰症 | Corneal dystrophy and perceptive deafness syndrome | SLC4A11 | <1 in 500 | |
| 腎小管性酸中毒 | Renal tubular acidosis | SLC4A4 | <1 in 500 | |
| 甲狀腺激素生成障礙第1型 | Thyroid dyshormonogenesis 1 | SLC5A5 | <1 in 500 | |
| SLC6A8基因相關肌酸轉運缺陷症/大腦肌酸缺乏症 候群 | Creatine transporter defect, SLC6A8-related, X- linked / Cerebral creatine deficiency syndrome | SLC6A8 | 1 in 20600 | 男性版不檢測 |
| chimke免疫骨發育不全症 | Schimke immunoosseous dysplasia | SMARCAL1 | <1 in 500 | |
| CEDNIK症候群（腦發育不全－神經病變－魚鱗癬 －掌蹠角化症候群） | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma (CEDNIK) syndrome | SNAP29 | <1 in 500 | |
| SPG11基因相關疾病 | SPG11-related disorders | SPG11 | 1 in 141 | |
| 墨蝶呤還原酶缺乏症 | Sepiapterin reductase deficiency | SPR | <1 in 500 | |
| 5-α還原酶缺乏症 | 5-alpha-reductase deficiency | SRD5A2 | <1 in 500 | |
| Amish 嬰兒癲癇症候群 | Amish infantile epilepsy syndrome | ST3GAL5 | <1 in 500 | |
| 先天性脂肪性腎上腺皮質增生症 | Lipoid congenital adrenal hyperplasia | STAR | <1 in 500 | |
| 家族性噬血性淋巴組織細胞增生症第4型 | Familial hemophagocytic lymphohistiocytosis 4 | STX11 | 1 in 354 | |
| 家族性噬血性淋巴組織細胞增生症第5型 | Familial hemophagocytic lymphohistiocytosis 5 | STXBP2 | 1 in 296 | |
| 單純性亞硫酸鹽氧化酶缺乏症 | Isolated sulfite oxidase deficiency | SUOX | <1 in 500 | |
| SURF1基因相關疾病 | SURF1-related disorders | SURF1 | 1 in 316 | |
| 非症候群型遺傳性聽損第76型 | Nonsyndromic hearing loss and deafness (DFNB) 76 | SYNE4 | <1 in 500 | |
| 巴氏症候群 | Barth syndrome | TAFAZZIN (formerly TAZ) | 1 in 225000 | 男性版不檢測 |
| 反覆代謝危機合併橫紋肌溶解、心律不整與神經退 化 | Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | TANGO2 | <1 in 500 | |
| 酪胺酸血症第2型 | Tyrosinemia, type II | TAT | <1 in 500 | |
| 早發性進行性腦病變伴隨腦萎縮及胼胝體變薄 | Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum | TBCD | <1 in 500 | |
| TBCE基因相關疾病 | TBCE-related disorders | TBCE | <1 in 500 | |
| TCIRG1基因相關嬰兒型惡性骨質石化症 | Osteopetrosis, infantile malignant, TCIRG1-related | TCIRG1 | 1 in 316 | |
| 轉鈷胺素 II 缺乏症 | Transcobalamin II deficiency | TCN2 | <1 in 500 | |
| TECPR2基因相關遺傳性感覺與自主神經病變合併 智能障礙 | TECPR2-related hereditary sensory and autonomic neuropathy with intellectual disability | TECPR2 | <1 in 500 | |
| 先天性角化不良症譜系疾病 | Dyskeratosis congenita spectrum disorders | TERT | <1 in 500 | |
| 無鐵傳遞蛋白質貧血 | Atransferrinemia | TF | 1 in 116 | |
| 遺傳性血鐵沉積症（血色素沉著病）第3型 | Hereditary hemochromatosis, type 3 | TFR2 | <1 in 500 | |
| 甲狀腺激素生成障礙第3型 9/10 | Thyroid dyshormonogenesis 3 | TG | 1 in 217 | |
| 進行性家族性肝內膽汁滯留症第4型 | Progressive familial intrahepatic cholestasis 4 | TJP2 | <1 in 500 | |
| TK2基因相關粒線體疾病 | TK2-related mitochondrial disorders | TK2 | <1 in 500 | |
| 非症候群型遺傳性聽損第7型 | Nonsyndromic hearing loss and deafness (DFNB) 7 | TMC1 | 1 in 96 | |
| TMEM67基因相關疾病 | TMEM67-related disorders | TMEM67 | 1 in 216 | |
| 非症候群型遺傳性聽損第8型 | Nonsyndromic hearing loss and deafness (DFNB) 8 | TMPRSS3 | 1 in 96 | |
| TNXB基因相關類典型Ehlers-Danlos症候群 | TNXB-related classical-like Ehlers-Danlos syndrome | TNXB | 1 in 28 | |
| 甲狀腺激素生成障礙第2A型 | Thyroid dyshormonogenesis 2A | TPO | 1 in 227 | |
| TREX1基因相關疾病 | TREX1-related disorders | TREX1 | <1 in 500 | |
| TRIM32基因相關疾病 | TRIM32-related disorders | TRIM32 | <1 in 500 | |
| 侏儒症合併肌肉、肝、腦、眼異常 | Mulibrey nanism | TRIM37 | <1 in 500 | |
| 嬰兒急性肝衰竭 | Acute infantile liver failure | TRMU | <1 in 500 | |
| 橋腦小腦發育不全症第2B型 | Pontocerebellar hypoplasia, type 2B | TSEN2 | <1 in 500 | |
| 橋腦小腦發育不全症第2A型和第4型 | Pontocerebellar hypoplasia, types 4 and 2A | TSEN54 | <1 in 500 | |
| 結合性氧化磷酸化缺乏症第3型 | Combined oxidative phosphorylation deficiency 3 | TSFM | <1 in 500 | |
| TSHB基因相關先天性甲狀腺功能低下 | Congenital hypothyroidism, TSHB-related | TSHB | <1 in 500 | |
| TSHR基因相關先天性甲狀腺機能低下症 | Congenital hypothyroidism, TSHR-related | TSHR | 1 in 322 | |
| 毛髮－肝臟－腸道症候群第1型 | Trichohepatoenteric syndrome 1 | TTC37 | 1 in 381 | |
| 巴德-畢德氏症候群第8型 | Bardet-Biedl syndrome 8 | TTC8 | <1 in 500 | |
| TULP1基因相關疾病 | TULP1-related disorders | TULP1 | 1 in 186 | |
| 第1型粒線體DNA耗竭症候群（MNGIE型） | Mitochondrial DNA depletion syndrome 1, MNGIE type | TYMP | <1 in 500 | |
| 眼睛皮膚白化症第1型 | Oculocutaneous albinism, type I | TYR | 1 in 20 | |
| 眼睛皮膚白化症第3型 | Oculocutaneous albinism, type III | TYRP1 | 1 in 488 | |
| 性聯遺傳嬰兒型脊髓性肌肉萎縮症 | X-linked infantile spinal muscular atrophy | UBA1 | <1 in 750000 | 男性版不檢測 |
| Johanson–Blizzard症候群 | Johanson-Blizzard syndrome | UBR1 | 1 in 250 | |
| 家族性噬血性淋巴組織細胞增生症第3型 | Familial hemophagocytic lymphohistiocytosis 3 | UNC13D | <1 in 500 | |
| β-尿基丙酸酶缺乏症 | Beta-ureidopropionase deficiency | UPB1 | <1 in 500 | |
| 維生素D依賴性佝僂病第2A型 | Vitamin D-resistant rickets, type 2A | VDR | <1 in 500 | |
| VLDLR基因相關小腦發育不全症 | VLDLR-associated cerebellar hypoplasia | VLDLR | <1 in 500 | |
| 低髓鞘腦白質失養症第12型 | Hypomyelinating leukodystrophy 12 | VPS11 | <1 in 500 | |
| 舞蹈症-棘狀紅細胞增多症 | Choreoacanthocytosis | VPS13A | <1 in 500 | |
| 科恩症候群 | Cohen syndrome | VPS13B | <1 in 500 | |
| 嚴重先天性嗜中性白血球低下症第5型 | Severe congenital neutropenia 5 | VPS45 | <1 in 500 | |
| 橋腦小腦發育不全症第2E型 | Pontocerebellar hypoplasia, type 2E | VPS53 | <1 in 500 | |
| 小腦發育不全症第1A 型 | Pontocerebellar hypoplasia, type 1A | VRK1 | <1 in 500 | |
| 先天性小眼球症/無眼球症 | Microphthalmia / Anophthalmia | VSX2 | <1 in 500 | |
| 牙－指甲－皮膚發育不良症候群／Schöpf–Schulz –Passarge症候群 | Odonto-onycho-dermal dysplasia / Schopf-Schulz- Passarge syndrome | WNT10A | 1 in 305 | |
| Werner症候群 | Werner syndrome | WRN | 1 in 224 | |
| WWOX缺乏症 | WWOX deficiency | WWOX | <1 in 500 | |
| 色素性乾皮症A型 | Xeroderma pigmentosum, group A | XPA | <1 in 750000 | |
| 著色性乾皮症C組 | Xeroderma pigmentosum, group C | XPC | 1 in 38000 | |
| 免疫缺陷－著絲點不穩定－顏面異常症候群第2型 | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | ZBTB24 | <1 in 500 | |
| 痙攣性下半身麻痺第15型 | Spastic paraplegia, type 15 | ZFYVE26 | <1 in 500 | |
| 性聯遺傳內臟異位症第1型 | X-linked heterotaxy-1 | ZIC3 | 1 in 375000 | 男性版不檢測 |
| 角膜脆弱症候群第1型 | Brittle cornea syndrome 1 | ZNF469 | <1 in 500 |
帶因率為慧智官方資料所列數值，檢測項目可能隨產品內容更新，實際項目以送檢當時的慧智正式資料為準。
常見問題
一定要懷孕後才能做嗎？
不用。帶因者篩檢在懷孕前就可以進行，備孕階段通常有比較充裕的時間了解結果與討論後續規劃。若已經懷孕，可與醫師討論適合的時機。
只有女生需要了解嗎？
不是。男女都可能帶有隱性遺傳疾病相關基因變異。進行生育規劃時，伴侶雙方的結果需要一起考量，才能比較完整地了解遺傳組合。
如果只有一個人是帶因者，寶寶會不會生病？
多數隱性遺傳疾病需要伴侶雙方都帶有同一疾病相關基因的致病變異，下一代罹病的機率才會提高；X 連鎖遺傳疾病則有不同的遺傳方式。如果檢出帶因，建議與遺傳醫學專科醫師討論。
v1.0、v2.0、v3.0 差在哪裡？
差別在檢測的疾病範圍：v1.0 為 6 項國際指引建議疾病，v2.0 為 155 項嚴重且高帶因率疾病，v3.0 為 611 項全球遺傳疾病。v3.0 涵蓋 v2.0，v2.0 涵蓋 v1.0。
費用是多少？
v1.0 為 16,000 元；v2.0 一人 28,000 元、兩人同行 48,000 元；v3.0 一人 46,000 元、兩人同行 69,000 元。2 人同行的費用條件，需填寫第一人檢測的相關資訊，且第一人的名義僅能使用一次；第二人也不能再成為其他受檢者的第一人。
帶因者篩檢可以取代產前檢查嗎？
不行。帶因者篩檢不是產前診斷，也不能取代懷孕期間原本應接受的產前檢查。
檢出帶因之後該怎麼辦？
檢出帶因不代表下一代一定會罹患該疾病。建議伴侶雙方帶著報告，與婦產科醫師或遺傳醫學專科醫師討論，由醫師依雙方的結果與家族史說明後續的選擇。
檢測結果的說明與提醒
- 慧智帶因篩檢屬遺傳疾病帶因者篩檢，不是產前診斷，也不能取代懷孕期間原本應接受的產前檢查。
- 未檢出帶因，不代表所有遺傳疾病風險為零；檢出帶因，也不代表下一代一定會罹患該疾病。
- 本檢測針對特定單基因點位，不包含大片段缺失、反轉、重複、融合、染色體數目異常、單親源二倍體與低比例鑲嵌型突變，檢出率取決於該疾病致病點位所占的比率。
- 進行本檢測無法保證一定能防止所檢疾病的發生；檢出帶因時，建議諮詢遺傳醫學專科醫師。
- 本頁為檢驗資訊與衛教說明，不進行醫師診斷與治療；報告內容請與婦產科醫師或遺傳醫學專科醫師討論。檢測項目、疾病清單與帶因率以慧智基因公布的正式資料為準。
想知道自己適不適合做帶因者篩檢？
是否需要檢測、選擇哪個版本，會因備孕狀況、家族史與雙方情況而不同。建議與婦產科醫師或遺傳醫學專科醫師討論，由醫師評估後再決定。
也可以來電 04-25320609 詢問，或直接線上預約抽血。