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 |
| 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 |