Jewish Genetic Diseases Carrier Screening Algorithm

Jewish genetic diseases are a group of rare disorders that occur more often in people of Eastern European Jewish descent. These disorders include Gaucher disease, Canavan disease, cystic fibrosis, Tay-Sachs, familial dysautonomia, Bloom syndrome, Fanconi anemia group C, mucolipidosis type IV, and Niemann-Pick. Some of these diseases have a high incidence in individuals of Ashkenazi Jewish descent. Routine preconception or prenatal carrier screening for Jewish genetic diseases is recommended in this population. Individuals with French Canadian or Louisiana Cajun ancestry should be screened for Tay-Sachs disease only.