The Diseases
Ashkenazi Jewish Genetic Diseases
Abetalipoproteinemia
Bloom’s Syndrome (BS)
Canavan Disease
Congenital Amegakaryocytic Thrombocytopenia
Congenital Disorder of Glycosylation la
Cystic Fibrosis (CF)*
Ehlers-Danlos VllC
Familial Dysautonomia (FD)
Familial Hyperinsulinism
Fanconi Anemia Type C
Fragile X Syndrome*
Galactosemia
Gaucher Disease Type 1
Glycogen Storage Disorder (Type Ia, Ib, III, V, VII)
Joubert Syndrome Type 2
Lipoamide Dehydrogenase Deficiency (E3)
Maple Syrup Urine Disease (MSUD)
Mucolipidosis Type 4 (ML4)
Nemaline Myopathy
Niemann-Pick Disease Type A
Retinitis Pigmentosa 59
Smith-Lemli-Opitz Syndrome
Spinal Muscular Atrophy (SMA)*
Tay-Sachs Disease
Tyrosinemia
Usher Syndrome Type 3
Usher Syndrome Type I
Walker Warburg Syndrome (WWS)
Wilson Disease
Sephardic/Mizrahi
Jewish Genetic Diseases
Beta-Thalassemia
Corticosterone Methyloxidase Type II Deficiency
Costeff Optical Atrophy
Cystic Fibrosis (CF)*
Familial Mediterranean Fever
Familial Tumoral Calcinosis (Normophosphatemic Type)
Fragile X Syndrome*
Glucose-6-Phosphate Dehydogenase Deficiency (G6PD)
Please note: This is not intended to be a comprehensive disease list or a guide for clinicians ordering testing. This list is meant to summarize some of the more common diseases specific to certain Jewish communities. You should always discuss genetic testing options with your healthcare provider or a genetic counselor to ensure an appropriate test is ordered.
*Pan-Ethnic conditions occur at the same frequency across ethnic groups. Therefore, carrier screening is recommended for all individuals regardless of ethnicity or gender.