Genes2Life - Genelist

Carrier Screening Test

#	Condition	Gene
1	17-Beta-Hydroxysteroid Dehydrogenase Deficiency, Type III	HSD17B3
2	21-Hydroxylase-Deficient Congenital Adrenal Hyperplasi	CYP21A2
A
3	Achondrogenesis, Type 1B	SLC26A2
4	Achromatopsia CNGB3-Related	CNGB3
5	Albinism, Oculocutaneous, Type I	TYR
6	Alkaptonuria	HGD
7	Alpers Syndrome	POLG
8	Alpha thalassemia	HBA1
9	Alpha thalassemia	HBA2
10	Amish Infantile Epilepsy Syndrome	ST3GAL5
11	Aspartylglycosaminuria	AGA
12	Ataxia Telangiectasia	ATM
B
13	Bardet-Biedl Syndrome 1	BBS1
14	Bardet-Biedl Syndrome 13 / Meckel-Gruber Syndrome 1 / Joubert Syndrome 28	MKS1
15	Bardet-Biedl Syndrome 2	BBS2
16	Beta-Thalassemia	HBB
17	Biotinidase Deficiency	BTD
18	Bloom Syndrome	BLM
C
19	Canavan Disease	ASPA
20	Cartilage-Hair Hypoplasia	RMRP
21	Chronic Granulomatous Disease 4	CYBA
22	Citrin Deficiency	SLC25A13
23	Classical homocystinuria	CBS
24	Congenital Adrenal Hyperplasia, 11-b hydroxylase	CYP11B1
25	Congenital Disorder of Glycosylation, Type 1a	PMM2
26	Cystic Fibrosis	CFTR
27	Cystinosis	CTNS
D
28	Dihydropyrimidine Dehydrogenase Deficiency	DPYD
E
29	Ellis-van Creveld Syndrome	EVC2
F
30	Factor XI Deficiency	F11
31	Familial Chloride Diarrhea	SLC26A3
32	Familial Dysautonomia	ELP1
33	Familial Hyperinsulinemic Hypoglycemia	ABCC8
34	Familial Hyperinsulinism	KCNJ11
35	Familial Mediterranean Fever	MEFV
36	Fanconi Anemia, Group C	FANCC
37	Fanconi Anemia, Group G	FANCG
38	Fanconi Anemia, Troup A	FANCA
G
39	Galactokinase Deficiency, Type II	GALK1
40	Galactosemia	GALT
41	Gaucher Disease	GBA
42	Gitelman Syndrome	SLC12A3
43	Glutaric Acidemia, Type 1	GCDH
44	Glycogen Storage Disease, Type 1A	G6PC1
45	Glycogen Storage Disease, Type 2 (Pompe Disease)	GAA
46	Glycogen Storage Disease, Type 3	AGL
47	Glycogen Storage Disease, Type 4	GBE1
H
48	Hereditary Fructose Intolerance	ALDOB
49	Hermansky-Pudlak Syndrome 1	HPS1
50	Holocarboxylase Synthetase Deficiency	HLCS
51	Hydrolethalus Syndrome	HYLS1
52	Hypophosphatasia	ALPL
J
53	Joubert Syndrome 2	TMEM216
L
54	Lethal Congenital Contracture Syndrome 1	GLE1
55	Limb-Girdle Muscular Dystrophy, Type C3	POMGNT1
M
56	Maple Syrup Urine Disease, Type III	DLD
57	Maple syrup urine Disease, Type 1A	BCKDHA
58	Maple syrup urine Disease, Type 1B	BCKDHB
59	Medium Chain Acyl-CoA Dehydrogenase Deficiency	ACADM
60	Metachromatic Leukodystrophy	ARSA
61	Mucolipidosis II/IIIA	GNPTAB
62	Mucolipidosis, Type IV	MCOLN1
63	Mucopolysaccharidosis, Type IVB	GLB1
64	Mulibrey Nanism	TRIM37
N
65	Nephrotic Syndrome, Type 1	NPHS1
66	Neuronal ceroid lipofuscinosis, PPT1-Related	PPT1
67	Neuronal ceroid lipofuscinosis, TPP1-Related	TPP1
68	Neuronal ceroid-lipofuscinosis, CLN5-Related	CLN5
69	Niemann-Pick Disease	SMPD1
70	Non-Syndromic Hearing Loss, GJB2-Related	GJB2
O
71	Osteopetrosis, Infantile Malignant	TCIRG1
P
72	Pendred Syndrome	SLC26A4
73	Phenylketonuria	PAH
74	Pituitary Hormone Deficiency 2	PROP1
75	Polyglandular aAutoimmune Syndrome, Type 1	AIRE
76	Primary congenital glaucoma	CYP1B1
R
77	Retinitis Pigmentosa 28	FAM161A
S
78	Salla Disease	SLC17A5
79	Sandhoff Disease	HEXB
80	Smith-Lemli-Opitz Syndrome	DHCR7
81	Spinal Muscular Atrophy	SMN1
T
82	Tay-Sachs Disease	HEXA
83	Tyrosinemia, Type I	FAH
U
84	Usher Syndrome, Type 1B	MYO7A
85	Usher Syndrome, Type 1C	USH1C
86	Usher Syndrome, Type 1D	CDH23
87	Usher Syndrome, Type 1F	PCDH15
88	Usher Syndrome, Type 3	CLRN1
V
89	Very-long Chain Acyl-CoA Dehydrogenase Deficiency	ACADVL
W
90	Walker-Warburg Syndrome	FKTN
91	Wilson Disease	ATP7B
92	Wolman Disease	LIPA
Z
93	Zellweger spectrum Disorders 4A	PEX6