Icahn School of Medicine at Mount Sinai
Mount Sinai - Twitter Mount Sinai - YouTube Mount Sinai - Facebook

Genetic Testing Lab

Test Catalog Molecular Genetics Laboratory Ashkenazi Jewish Carrier Test Panel

Ashkenazi Jewish Carrier Test Panel

Test Description:
The Ashkenazi Jewish Panel tests for mutations associated with seventeen autosomal recessive diseases that are found at an increased frequency in the Ashkenazi Jewish population: Tay-Sachs disease, Canavan disease, familial dysautonomia, Gaucher disease, Fanconi anemia group C, Niemann-Pick disease, Bloom syndrome, mucolipidosis type IV, maple urine syrup disease, glycogen storage disease type 1a, lipoamide dehydrogenous deficiency (E3), familial hyperinsulinism, nemaline myopathy, Usher syndrome types III and IF, Joubert syndrome and Walker-Warburg syndrome, plus the Cystic fibrosis 70 mutation test for a total of 18 disorders. Testing is performed by mutation analysis for each of these disorders as well as enzyme analysis for Tay-Sachs disease. Because of the serious and life-threatening nature of several of these conditions and the lack of available treatment, prevention is the best strategy for combating these diseases. Carrier screening and appropriate genetic counseling can be used to dramatically reduce the incidence of these disorders in the Ashkenazi Jewish population. For Tay-Sachs disease, where carrier screening has been used since the 1970s, the disease incidence has decreased by 90%. The American College of Medical Genetics and the American College of Obstetricians and Gynecologists currently recommend carrier screening for Tay-Sachs disease, Canavan disease and familial dysautonomia in the Ashkenazi Jewish population. Furthermore, the American College of Medical Genetics recommends that carrier screening for Bloom syndrome, Fanconi anemia, Gaucher disease, mucolipidosis type IV and Niemann-Pick disease be offered. For more detailed test information, please refer to each individual test.

Specimen Requirements:
Three 5-10 ml tubes of anticoagulated blood. The preferred anticoagulant is EDTA (lavendar top tubes), ACD (yellow top) tubes are also accepted.

Shipping: Send at room temperature.

Turnaround Time: 10-14 days

CPT Codes: 83891, 83892x8, 83900x3, 83901x27, 83912, 83914x74

Consent and Requisition Forms: Carrier Screening Requisition and Consent [PDF]

Additional Information: Jewish Genetic Screening Brochure [PDF]