Hexosaminidase (Tay-Sachs), Leukocytes
Tay-Sachs, GM2 Gangliosidosis, Hexosaminidase A, Total Hexosaminidase, Sandoff's disease, Autyl Glucosaminidase , MAYO: NAGW, Antrim #82350, EPIC: LAB6053, SOFT: XHEXL
- For Hexosaminidase (Tay-Sachs) testing, this is the preferred test for pregnant females.
- Due to stability concerns, specimens must be received by the referral laboratory within 96 hours of collection. Specimens may only be collected Monday - Thursday.
Specimen Collection Criteria
Collect: One Yellow-top ACD tube.
Send specimen for processing immediately after collection.
Physician Office/Drawsite Specimen Preparation
Arrange for transportation to the Laboratory prior to specimen collection. Do not centrifuge or freeze. Refrigerate (2-8°C or 36-46°F) specimen in the original collection tube prior to transport.
Preparation for Courier Transport
Transport: 6.0 mL whole blood in original collection tube, refrigerated (2-8°C or 36-46°F). (Min: 5.0 mL)
- Centrifuged specimens.
- Grossly hemolyzed specimens.
- Specimens not collected and processed as indicated.
Monday, Thursday, and alternating Fridays.
Results available in 5-9 days.
Heat Inactivation, Fluorometric, Semiautomated.
The key factor for determining carrier status is percent A.
- Less than 58% A is a carrier.
- Less than 20% A is Tay-Sachs disease.
- Greater than or equal to 76% is a Sandhoff carrier.
- 63-75% A is normal.
- 58-62% A is ambiguous.
- Total activity near zero is found in Sandhoff disease.
This assay aids in the diagnosis of Tay-Sachs disease, carriers of Tay-Sachs, Sandhoff's disease, and carriers of Sandhoff's. This is the preferred test for pregnant females.
MAYO: NAGW, Antrim #82350, EPIC: LAB6053, SOFT: XHEXL