Tay-Sachs (Hexosaminidase)
Test Mnemonic
HEX
CPT Codes
- 83080 - QTY (1)
LOINC ®
2643-5
Aliases
- B 1 Variant
- Hexosaminidase A (MUGS), Serum
- Hexosaminidase A, Serum
- Hexosaminidase Tay Sachs Carrier Testing
Includes
- Hexosaminidase A (MUGS), S
Performing Laboratory
Mayo Clinic Dpt of Lab Med & Pathology
Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 1 mL | Serum | SST (Gold) | Frozen | Patient must fast for 4 hours prior to collection. |
Alternate Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 1 mL | Serum | No additive (Red) | Frozen | Patient must fast for 4 hours prior to collection. |
Minimum Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 0.15 mL |
Stability
| Environmental Condition | Description |
|---|---|
| Ambient | Unacceptable |
| Frozen | 1 year |
| Refrigerated | 5 days |
Days Performed
Monthly
Turnaround Time
30 - 45 days
Methodology
| Name | Description |
|---|---|
| Fluorometry (FLM) |
Special Info
This test cannot be performed on pregnant women. Patient must be fasting (4 hours). This test is New York State approved. New York clients must provide informed consent. Physician's name and phone number are required.
Clinical Info
Used to screen for Tay-Sachs in the male and non-pregnant female. This test is the recommended test for diagnosis and carrier testing for the B1 variant of Tay-Sachs disease and is performed on serum using the natural substrate. It should not be ordered as a first-line test.