Genzyme’s Ashkenazi Jewish carrier screening menu tests for autosomal recessive diseases of increased frequency in the Ashkenazi Jewish population. It is standard of care to offer carrier screening to individuals of Ashkenazi Jewish descent for Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia group C, Gaucher disease, mucolipidosis type IV, Niemann-Pick disease type A and Tay-Sachs disease. Carrier screening is also available for some other disorders occurring more frequently in this population.
For additional information, please see the test page for the individual conditions listed below.
Mutation Analyses:
Physician Brochure - Ashkenazi Jewish Carrier Testing (PDF)
Patient Brochure - Ashkenazi Jewish Carrier Testing (PDF)
CPT Codes:
Please refer to individual test pages.
Interpretation and report billing code (83912) will be charged a maximum of two times for any combination of two or more Ashkenazi Jewish Carrier tests.
Specimen Requirements:
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Blood:
- ACD-A (yellow-top) or EDTA (lavender-top) tube.
- Adult: 10 ml whole blood for one test, 30ml whole blood if ordering multiple tests.
- Turnaround Time: 10-14 days
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Mouthwash:
- Please Note: Patient should not eat, drink, smoke or chew gum for at least one hour prior to collection (see specimen kit for detailed instructions). Mouthwash samples can be sent when ordering up to two tests. When ordering more than two tests, blood samples are required. Mouthwash cannot be used for Tay-Sachs disease carrier screening as Tay-Sachs enzyme analysis requires a blood sample.
- 10 ml of Scope® mouthwash that has been swished vigorously for at least one minute.
- Collect in orange-top 50 ml polypropylene tube.
- Turnaround Time: 10-14 days
Client Services:
Reproductive/Genetics
800-848-4436
Specimen Services/Pickup:
877-246-1226
Scope® is a registered trademark of The Procter & Gamble Company.