Hexosaminidase (Tay-Sachs), Serum
Tay-Sachs, GM2 Gangliosidosis, HexosaminidaseA and Total Hexosaminidase, Sandoff , MAYO: NAGS, Antrim #82475, EPIC: LAB6054, SOFT: XHEXS
Serum assay results are often ambiguous on pregnant females and will not be run. For pregnant women, please see Hexosaminidase (Tay-Sachs), Leukocytes.
Specimen Collection Criteria
Collect (preferred specimen): One plain Red-top tube.
Also acceptable: One gold-top SST tube.
Send specimen for processing immediately after collection.
Physician Office/Drawsite Specimen Preparation
Let specimen clot 30-60 minutes then centrifuge to separate serum from cells. Transfer serum to plastic transport tube and freeze (-20°C/-4°F or below) immediately.
Preparation for Courier Transport
Transport: 1.0 mL serum, frozen (-20°C/-4°F or below). (Min: 0.5 mL)
- Grossly icteric specimens.
- Specimens collected on pregnant females.
- Specimens not collected and processed as indicated.
Results avalible in 9-16 days.
Heat Inactivation, Fluorometric, Automated.
If females wish screening for carrier status of hexosaminidase A deficiency, they must be tested prior to pregnancy. If the female is pregnant, we strongly suggest that her mate be tested for carrier status. Positive (or ambiguous) findings in the mate indicate a second order test on the female with leukocyte or fibroblast preparations by special arrangement with Mayo Medical Laboratories.
This assay aids in the diagnosis of Tay-Sachs disease, carriers of Tay-Sachs, Sandhoff's disease, and carriers of Sandhoff's.
MAYO: NAGS, Antrim #82475, EPIC: LAB6054, SOFT: XHEXS