Hexosaminidase A and Total Hexosaminidase, Serum
Use
Carrier detection and diagnosis of Tay-Sachs disease and Sandhoff disease. It is particularly useful when it is difficult to obtain enough blood to perform leukocyte testing, as may be the case with infants. Not useful for pregnant females or those treated with hormonal contraception.
Special Instructions
The test is available for diagnostic and carrier testing. If results indicate normal, indeterminate, or carrier status and the suspicion of Tay-Sachs disease remains high, MUGS can typically be added and performed on the same specimen. Follow-up testing must be ordered separately on new specimens.
Limitations
This test is not appropriate for pregnant females or women receiving hormonal contraception. GM2 activator deficiency is not detected with this assay. Results for hexosaminidase A and total enzyme analysis are reported with recommendations for additional testing when appropriate.
New York Approved
Methodology
Automated Analyzer (Clinical Chemistry)
Biomarkers
LOINC Codes
- 87545-0
- 1956-2
- 12914-8
- 59462-2
- 18771-6
Result Turnaround Time
2-6 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
1 mL
Minimum Volume
0.5 mL
Container
Plastic vial
Collection Instructions
Centrifuge and aliquot serum into plastic vial.
Causes for Rejection
Gross icterus
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 7 days |
| Frozen | 30 days |