Tay-Sachs Disease, Biochemical
Also known as: Beta-Hexosaminidase A and Total Beta-Hexosaminidase From Serum, GM2 Gangliosidosis
Use
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.
Special Instructions
Not provided.
Limitations
The biochemical 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. As the test was developed by Labcorp, its performance characteristics have not been cleared or approved by the Food and Drug Administration.
Methodology
Other
Biomarkers
LOINC Codes
- 87545-0 - Hexosaminidase A & Total Pnl SerPl
- 12914-8 - Hexosaminidase A CFr SerPl
- 1954-7 - B-NAH SerPl-cCnc
- 72486-4 - Lab director name Provider
- 49549-9 - Ref lab test method
Result Turnaround Time
4-14 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
3 mL
Minimum Volume
1 mL
Container
Red-top tube
Collection Instructions
Separate serum from cells within 30 minutes of collection. Transfer specimen to a plastic transport tube before freezing.
Storage Instructions
Freeze
Causes for Rejection
Quantity not sufficient for analysis; thawed specimen
Stability Requirements
| Temperature | Period |
|---|---|
| Frozen | 1 month |
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