Tay-Sachs Disease, Biochemical, Leukocytes
Also known as: Beta-Hexosaminidase A and Total Beta-Hexosaminidase From Leukocytes, GM2 Gangliosidosis
Use
Identification of Tay-Sachs disease gene carriers and affected individuals
Special Instructions
Not provided.
Limitations
The 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, and it has not been cleared or approved by the FDA.
Methodology
Other
Biomarkers
Hexosaminidase A Activity
AnalyteTotal Hexosaminidase Activity
Analyte
LOINC Codes
- 24075-4 - B-NAH WBC-cCnt
- 23825-3 - Hexosaminidase A CFr WBC
- 24075-4 - B-NAH WBC-cCnt
- 8251-1 - Service Cmnt-Imp
- 49549-9 - Ref lab test method
- 19147-8 - Ref Lab Test Ref Range
- 59462-2 - Clinical biochemist review
- 31208-2 - Specimen source
Result Turnaround Time
4-14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
10 mL
Minimum Volume
5 mL
Container
Yellow-top (ACD) tube
Collection Instructions
Refrigerate after collection. Transport to the testing lab using cool pack or Labcorp transport kit. Do not allow sample to freeze. Sample must arrive in the laboratory within four days of collection.
Storage Instructions
Refrigerate.
Causes for Rejection
Quantity not sufficient for analysis; frozen specimen; specimen not received within four days of collection; incorrect specimen collection tube; gross hemolysis; unable to isolate viable white blood cells
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 4 days |
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