In every ethnic, demographic, or racial group, there are certain inherited disorders that occur more frequently than in the general population. Such is the case for Ashkenazi Jewish individuals whose ancestors lived in Central or Eastern Europe. If you and/or your spouse are of Ashkenazi Jewish descent, you have the opportunity to be screened for inherited life-threatening diseases that are more prevalent among Ashkenazi Jews.
Some of these genetic diseases include:
- Tay-Sachs
- Familial Dysautonomia (FD)
- Canavan Disease
- Niemann-Pick
- Gaucher Disease (Type I)
- Cystic Fibrosis (CF)
- Fanconi Anemia (Type C)
- Bloom Syndrome
- Mucolipidosis type IV
- Maple Syrup Urine Disease
- Glycogen Storage (type 1a)
The Genetic Disease Foundation has spearheaded an awareness campaign to educate physicians and their patients about the availability of screening for these eleven diseases for individuals and couples of Ashkenazi Jewish descent. For such individuals and couples, the physician can order one simple blood test to determine if either carries a gene mutation that can cause any of these diseases in their children.
Testing Availability
Screening for any of the diseases can be performed individually at many labs throughout the US as well as outside the US . The Genetic Diagnostic Laboratory of Mount Sinai School of Medicine can do screening with one blood sample, as well as select diseases.
Contact Information
For patient testing call The Jewish Genetic Disease Screening Program of Mount Sinai School of Medicine at 212-241-6947 or contact any of the other major US laboratories performing carrier testing for Jewish Genetic Diseases.
What Is Genetic Screening?
Jewish Genetic Diseases Summary Table
