Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Molecular Genetics Laboratory Expanded Carrier Screening Panel

Expanded Carrier Screening Panel

Test Description:
The Expanded Carrier Screening Panel is a pan-ethnic test for mutations associated with one hundred single gene 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. For a list of the disorders included on this panel, please download the attachment from the link below.

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: 14 days

CPT Codes: 83891, 83900, 83901 x14, 83914 x31

Consent Forms: Counsyl Consent [PDF]

Requisition Form: General Test Requisition [PDF]

Additional Information: Expanded Screening List of Disorders [PDF]