Ashkenazi Jewish Genetic Diseases

Individuals of Ashkenazi Jewish descent are at an increased risk for certain autosomal recessive genetic disorders. These disorders include cystic fibrosis, Canavan disease, familial dysautonomia, Tay-Sachs disease, Fanconi anemia, Niemann-Pick disease, Bloom syndrome, mucolipidosis type IV, and Gaucher disease, among others.    It is estimated that one in every four or five individuals of Ashkenazi Jewish descent is a carrier for one of these conditions.  Due to the increased incidence of these diseases in this population (see Table 1 in the Ashkenazi Jewish Genetic Diseases Test Fact Sheet), routine preconception or prenatal expanded carrier screening is recommended.   Laboratory testing may entail a gene panel for multiple disorders, single-disorder genetic testing, or other testing (eg, hexosaminidase enzyme assays for Tay-Sachs disease), depending on the needs of the patient.   

Tabs Content
Content Review: 
April 2019

Last Update: April 2019