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Hexosaminidase (Tay-Sachs), Serum

Tay-Sachs, G_M2 Gangliosidosis, HexosaminidaseA and Total Hexosaminidase, Sandoff

Test Codes

EPIC: LAB6054, Beaker: XMISC, Mayo: NAGS

Department

Send Outs

Instructions

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/Draw 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).

Preparation for Courier Transport

Transport: 1.0 mL serum, frozen (-20°C/-4°F or below). (Minimum: 0.5 mL)

Rejection Criteria

• Grossly icteric specimens.
• Specimens collected on pregnant females.
• Specimens not collected and processed as indicated.

In-Lab Processing

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).

Transport: 1.0 mL serum, frozen (-20°C/-4°F or below). (Minimum: 0.5 mL)

Storage

Specimen Stability for Testing:

Room temperature (20-26°C or 68-78.8°F): Unacceptable
Refrigerated (2-8°C or 36-46°F): 7 days
Frozen (-20°C/-4°F or below): 30 days

Specimen Storage in Department Prior to Disposal:

Specimen retention time is determined by the policy of the reference laboratory. Contact the Send Outs Laboratory with any questions. 

Laboratory

Sent to Mayo Medical Laboratories, Rochester, MN.

Performed

Varies.
Results available in 9-16 days.

Reference Range

By report.

Test Methodology

Heat Inactivation, Fluorometric, Automated.

Interpretation

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.

Clinical Utility

This assay aids in the diagnosis of Tay-Sachs disease, carriers of Tay-Sachs, Sandhoff's disease, and carriers of Sandhoff's.

CPT Codes

83080x2.

Contacts

Last Updated

7/21/2024