Ashkenazi Jewish Carrier Test Panel
The Ashkenazi Jewish Panel tests for mutations associated with 36 autosomal recessive diseases that are found at an increased frequency in the Ashkenazi Jewish population:
Testing is performed by mutation genotyping for each of these disorders, as well as by 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, familial dysautonomia, and cystic fibrosis 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.
Three 5-10 ml tubes of anticoagulated blood in EDTA (lavender top) and one 5-10 ml tube of anticoabulated blood in ACD (yellow top). Alternatively, five 5-10 mL tubes of anticoagulated blood in EDTA (lavender top) are acceptable.
Turnaround Time: 10-14 days
CPT Codes: 81209, 81200, 81220, 81260, 81242, 81251, 81250, 81400x4, 81401x2, 81205, 81290, 81330, 81255
Consent and Requisition Forms: Carrier Screening Requisition and Consent [PDF]
Additional Information: Expanded Ashkenazi Jewish Carrier Screening brochure [PDF]