Hexosaminidase A & B Enzyme Analysis
Use
This test provides enzymatic analysis of Hexosaminidase A and B in serum for the biochemical diagnosis of Tay-Sachs disease (TSD) and Sandhoff disease (SD). Molecular genetic testing can further clarify carrier status. Tay-Sachs is a fatal condition in its acute form, resulting in progressive nervous system deterioration following a normal development period in infancy. Symptoms typically emerge around 6 months after milestone achievements. Sandhoff disease presents similarly, with typically earlier onset. Identifying these conditions early can be vital for patient management and familial preparedness.
Special Instructions
Patients with suspected Tay-Sachs or Sandhoff diseases are indicated for testing. This includes symptomatic patients with a family history of either disorder. Additionally, patients who have positive newborn screenings are also advised to undergo this test. Carrier status can be confirmed through molecular genetic testing. Specific test codes must be used for carrier screening.
Limitations
This test may not detect all variants associated with Tay-Sachs and Sandhoff diseases, and the absence of enzyme activity does not exclude carrier status. Molecular genetic testing may be necessary for conclusive diagnosis. Results should be interpreted considering concurrent clinical findings and family history. Enzyme activity can vary and may not correlate with the clinical severity of the disease.
New York Approved
Methodology
Immunoassay (Other)
Biomarkers
Result Turnaround Time
14 days
Related Documents
For more information, please review the documents below
Specimen
Serum (Frozen)
Volume
1-2 cc
Minimum Volume
1 cc
Container
No Additive (red-top) or Serum Gel (red/gray-top) tube
Collection Instructions
Draw blood in a No Additive (red-top) or Serum Gel (red/gray-top) tube(s) and separate as soon as possible.
Storage Instructions
Store the specimen frozen at -20C.
Stability Requirements
| Temperature | Period |
|---|---|
| Frozen | Indefinitely |