Genetic Conditions Commonly Found in the
Jewish Population

Listed below are diseases that are commonly found among individuals with Ashkenazi, Sephardic, or Mizrahi ancestry. These conditions are included in the JScreen Panel.


21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
ABCC8-Related Hyperinsulinism
Alpha Thalassemia
Autosomal Recessive Polycystic Kidney Disease
Beta Thalassemia
Bloom Syndrome
Canavan Disease Carnitine Palmitoyltransferase II Deficiency
Congenital Disorder of Glycosylation Type Ia
Costeff Optic Atrophy Syndrome
Cystic Fibrosis
Factor XI Deficiency
Familial Dysautonomia
Familial Mediterranean Fever
Fanconi Anemia Type C
Fragile X Syndrome
Gaucher Disease
Glucose-6-Phosphate Dehydrogenase Deficiency
Glycogen Storage Disease Type Ia
Glycogen Storage Disease Type III
Inclusion Body Myopathy 2
Joubert Syndrome 2
Lipoamide Dehydrogenase Deficiency
Maple Syrup Urine Disease Type 1B
Megalencephalic Leukoencephalopathy With Subcortical Cysts
Metachromatic Leukodystrophy
Mucolipidosis IV
NEB-Related Nemaline Myopathy
Niemann-Pick Disease, SMPD1-Associated
Phenylalanine Hydroxylase Deficiency (PKU)
Polyglandular Autoimmune Syndrome Type 1
Pseudocholinesterase Deficiency
Sickle Cell Disease
Smith-Lemli-Opitz Syndrome
Spinal Muscular Atrophy
Tay-Sachs Disease
Tyrosinemia Type I
Usher Syndrome Type 1F
Usher Syndrome Type 3
Walker Warburg syndrome
Wilson Disease