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Tay-Sachs Disease, Biochemical
- Beta-Hexosaminidase A and Total Beta-Hexosaminidase From Serum
- GM2 Gangliosidosis
Determine Tay-Sachs carrier and affected status. This serum assay should not be performed on women who are pregnant or who are taking oral contraceptives. Identification of Sandhoff carrier and affected status. May be used in the diagnosis of I-cell disease.
This assay may not detect patients or carriers of rare variants of Tay-Sachs disease such as the B-1 variant or the activator protein deficiency.
This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).
This assay may not detect patients or carriers of rare variants of Tay-Sachs disease such as the B-1 variant or the activator protein deficiency.<
This assay may not detect patients or carriers of rare variants of Tay-Sachs disease such as the B-1 variant or the activator protein deficiency.<.
Determination of enzymatic activity using heat inactivation
Separate serum from cells within 30 minutes of collection. Transfer specimen to a plastic transport tube before freezing. To avoid delays in turnaround time when requesting multiple tests on frozen samples, please submit separate frozen specimens for each test requested.
Causes for Rejection
Quantity not sufficient for analysis; thawed specimen
A completed Tay-Sachs Disease Screening Questionnaires must accompany specimens. Call 800-345-4363 to request forms, or print the form from the Genetics Appendix online.