List of diseases covered by
Ashkenazi Jewish diseases NGS panel

Gene Condition
ABCC8 Diabetes mellitus, noninsulin-dependent;
Diabetes mellitus, permanent neonatal;
Diabetes mellitus, transient neonatal 2;
Hyperinsulinemic hypoglycemia, familial, 1;
Hypoglycemia of infancy, leucine-sensitive
AGL Glycogen storage disease IIIa
ASPA Canavan disease
BCKDHB Maple syrup urine disease, type Ib
BLM Bloom syndrome
BRCA1 Fanconi anemia, complementation group S;
Breast-ovarian cancer, familial, 1; Pancreatic cancer, susceptibility to, 4
BRCA2 Fanconi anemia, complementation group D1; Wilms tumor;
Breast cancer, male, susceptibility to;
Breast-ovarian cancer, familial, 2; Glioblastoma 3;
Medulloblastoma; Pancreatic cancer 2; Prostate cancer
CFTR Cystic fibrosis; Congenital bilateral absence of vas deferens;
Bronchiectasis with or without elevated sweat chloride 1,
modifier of; Pancreatitis, hereditary
CLRN1 Retinitis pigmentosa 61; Usher syndrome, type 3A
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
DLD Dihydrolipoamide dehydrogenase deficiency
F11 Factor XI deficiency, autosomal dominant;
Factor XI deficiency, autosomal recessive
FANCC Fanconi anemia, complementation group C
FKTN Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 4;
Muscular dystrophy-dystroglycanopathy
(congenital without mental retardation), type B, 4;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4;
Cardiomyopathy, dilated, 1X
GBA Gaucher disease, perinatal lethal; Gaucher disease, type I;
Gaucher disease, type II; Gaucher disease, type III;
Gaucher disease, type IIIc
GJB2 Bart-Pumphrey syndrome; Deafness, autosomal dominant 3A;
Deafness, autosomal recessive 1A;
Hystrix-like ichthyosis with deafness;
Keratitis-ichthyosis-deafness syndrome;
Keratoderma, palmoplantar, with deafness; Vohwinkel syndrome
G6PC Glycogen storage disease Ia
HEXA Tay-Sachs disease
IKBKAP Dysautonomia, familial
LCA5 Leber congenital amaurosis 5
LDLR Hypercholesterolemia, familial
LRRK2 Parkinson disease 8
MCOLN1 Mucolipidosis IV
MEFV Familial Mediterranean fever, AD; Familial Mediterranean fever, AR
MSH2 Colorectal cancer, hereditary nonpolyposis, type 1;
Mismatch repair cancer syndrome; Muir-Torre syndrome
MSH6 Colorectal cancer, hereditary nonpolyposis, type 5;
Endometrial cancer, familial; Mismatch repair cancer syndrome
NEB Nemaline myopathy 2, autosomal recessive
PCDH15 Deafness, autosomal recessive 23; Usher syndrome, type 1D/F digenic;
Usher syndrome, type 1F
SERPINA1 Emphysema due to AAT deficiency;
Pulmonary disease, chronic obstructive, susceptibility to
SMN1 Spinal muscular atrophy-1; Spinal muscular atrophy-2;
Spinal muscular atrophy-3; Spinal muscular atrophy-4
SMPD1 Niemann-Pick disease, type A; Niemann-Pick disease, type B
TMEM216 Joubert syndrome 2; Meckel syndrome 2
TOR1A Dystonia-1, torsion