Page 1 of 18
添好孕-單基因遺傳病基因檢測
【檢測項目列表】
編號 疾病名稱 基因 遺傳模式 帶因率
檢測規格
添好孕
(14 項)
添好孕 PLUS
(171 項)
1
α-地中海型貧血
Alpha-thalassemia
HBA1/HBA2 AR 1/30-1/50 ● ●
2
β-地中海型貧血
Beta-thalassemia
HBB AR <1/300 ● ●
3
A 型血友病(甲型血友病)
Hemophilia A
F8 XR <8/100 ● ●
4
B 型血友病(乙型血友病)
Hemophilia B
F9 XR <3/1000 ● ●
5
遺傳性耳聾
Autosomal Recessive Deafness
GJB2 AR <4/100 ● ●
6
遺傳性耳聾/彭德雷德氏症候群
Autosomal Recessive Deafness/Pendred Syndrome
SLC26A4 AR <1/50 ● ●
7
脊髓性肌肉萎縮症
Spinal Muscular Atrophy
SMN1 AR 1/35-1/50 ● ●
8
裘馨氏肌肉萎縮症
Duchenne Muscular Dystrophy
DMD XR <1/1500 ● ●
9
苯酮尿症
Phenylketonuria
PAH AR <2/100 ● ●
10
威爾森氏症
Wilson Disease
ATP7B AR <2/100 ● ●
Page 2 of 18
添好孕-單基因遺傳病基因檢測
【檢測項目列表】
編號 疾病名稱 基因 遺傳模式 帶因率
檢測規格
添好孕
(14 項)
添好孕 PLUS
(171 項)
11
龐貝氏症
Glycogen Storage Disease Type II
GAA AR <2/100 ● ●
12
囊腫性纖維化
Cystic Fibrosis
CFTR AR <4/100 ● ●
13
半乳糖血症
Galactosemia
GALT AR <6/1000 ● ●
14
X 染色體脆折症
Fragile X Syndrome
FMR1 XR <1/250 ● ●
15
范可尼氏貧血症 A 型
Fanconi anemia, complementation group A
FANCA AR <6/1000 - ●
16
范可尼氏貧血症 C 型
Fanconi anemia, complementation group C
FANCC AR <2/1000 - ●
17
鐮刀型貧血症
Sickle Cell Anemia
HBB AR <3/100 - ●
18
X 連鎖嚴重複合型免疫不全症
X Linked Severe Combined Immunodeficiency
IL2RG XR <2/1000000 - ●
19
家族性噬血球性淋巴組織球增生症 2 型
Hemophagocytic lymphohistiocytosis, familial Type 2
PRF1 AR <5/1000 - ●
20
家族性噬血球性淋巴組織球增生症 3 型
Hemophagocytic lymphohistiocytosis, familial Type 3
UNC13D AR <6/1000 - ●
Page 3 of 18
添好孕-單基因遺傳病基因檢測
【檢測項目列表】
編號 疾病名稱 基因 遺傳模式 帶因率
檢測規格
添好孕
(14 項)
添好孕 PLUS
(171 項)
21
家族性噬血球性淋巴組織球增生症 4 型
Hemophagocytic lymphohistiocytosis, familial Type 4
STX11 AR <3/1000 - ●
22
家族性噬血球性淋巴組織球增生症 5 型
Hemophagocytic lymphohistiocytosis, familial Type 5
STXBP2 AR <2/1000 - ●
23
中鏈醯基輔酶 A 脫氫酶缺乏症
Acyl-CoA Dehydrogenase Deficiency, Medium-Chain
ACADM AR <2/100 - ●
24
極長鏈醯基輔酶 A 脫氫酶缺乏症
Acyl-CoA Dehydrogenase Deficiency, Very Long-Chain
ACADVL AR <6/1000 - ●
25
短鏈醯基輔酶 A 脫氫酶缺乏症
Acyl-CoA Dehydrogenase Deficiency, Short-Chain
ACADS AR <7/1000 - ●
26
α-甘露糖儲積症
Alpha-Mannosidosis
MAN2B1 AR <2/1000 - ●
27
海綿狀腦白質營養不良症
Canavan Disease
ASPA AR <4/1000 - ●
28
法布瑞氏症
Fabry Disease
GLA XR <8/10000 - ●
29
戊二酸血症第 1 型
Glutaricacidemia Type 1
GCDH AR <5/1000 - ●
30
肝醣儲積症第 1A 型
Glycogen Storage Disease Type Ia
G6PC AR <3/1000 - ●