Gaucher disease occurs at an increased frequency in individuals of Ashkenazi Jewish descent, with a carrier frequency of approximately 1 in 15. It is a lysosomal storage disorder with variable severity that, if untreated, may result in anemia, hepatosplenomegaly, nosebleeds and fractures. In the more severe and rare form, the brain and nervous system are involved. Enzyme analysis is performed in individuals suspected to have the disease, who may need enzyme replacement therapy.
Please Note: While we offer enzyme testing as a standalone test, we strongly recommend that clients opt for both DNA and enzyme testing.
CPT Codes:
82657(1), 84155(1)
Specimen Requirements:
Please Note: Time-sensitive; specimens must be received within 4 days of collection; please collect/ship Monday-Thursday only.
Blood:
Enzyme Testing Only:
- Adult: Two 10 ml EDTA (lavender-top) tubes.
- Child: One EDTA (lavender-top) tube.
Enzyme and Mutation Analysis:
- Four 10 ml EDTA (lavender-top) tubes.
Turnaround Time:
7-14 days
Client Services:
Reproductive/Genetics
800-848-4436
Specimen Services/Pickup:
877-246-1226