Tay-Sachs Disease, Biochemical, Serum
Beta-Hexosaminidase A and Total Beta-Hexosaminidase From Serum
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 assay should not be performed on women who are pregnant or who are taking oral contraceptives.
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.
Quantity not sufficient for analysis; thawed specimen