Ashkenazi 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.

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