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For hours, walk-ins and appointments.Synonyms
- Beta-Hexosaminidase A and Total Beta-Hexosaminidase From Serum
- GM2 Gangliosidosis
Expected Turnaround Time
4 - 14 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Related Documents
Specimen Requirements
Specimen
Serum, frozen
Volume
3 mL
Minimum Volume
1 mL
Container
Red-top tube
Collection
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.
Storage Instructions
Freeze
Stability Requirements
Temperature | Period |
|---|---|
Frozen | 1 month |
Causes for Rejection
Quantity not sufficient for analysis; thawed specimen
Test Details
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.
Limitations
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 Food and Drug Administration.
Methodology
Determination of enzymatic activity using heat inactivation
Contraindications
This assay should not be performed on women who are pregnant or who are taking oral contraceptives.
References
Kaback MM. Thermal fractionation of serum hexosaminidases: Applications to heterozygote detection and diagnosis of Tay-Sachs disease. Methods Enzymol. 1972; 28:862-867.
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 510412 | Tay-Sachs, Biochemical, Serum | 2643-5 | 510414 | % Hex A | % | 12914-8 |
| 510412 | Tay-Sachs, Biochemical, Serum | 2643-5 | 510415 | Total Activity | nmol/hr/mL | 2643-5 |
| 510412 | Tay-Sachs, Biochemical, Serum | 2643-5 | 510416 | Tot Act of Norm Ctrl | nmol/hr/mL | N/A |
| 510412 | Tay-Sachs, Biochemical, Serum | 2643-5 | 510417 | Results: | N/A | |
| 510412 | Tay-Sachs, Biochemical, Serum | 2643-5 | 510419 | Director Review | 72486-4 | |
| 510412 | Tay-Sachs, Biochemical, Serum | 2643-5 | 512339 | Methodology | 49549-9 | |
| 510412 | Tay-Sachs, Biochemical, Serum | 2643-5 | 402367 | Disclaimer: | N/A |
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