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Hexosaminidase (Tay-Sachs), Leukocytes with Molecular Reflex

Tay-Sachs, G_M2 Gangliosidosis, Hexosaminidase A, Total Hexosaminidase, Sandoff's disease, Autyl Glucosaminidase

Test Codes

EPIC: LAB7950, Beaker: XHEXL, Mayo: NAGR

Department

Send Outs

Instructions

Due to stability concerns, specimens must only be collected Monday – Thursday and not the day before a holiday.

Specimen Collection Criteria

Collect: One Yellow-top ACD tube.

Send specimen for processing immediately after collection.

Physician Office/Draw 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). (Minimum: 5.0 mL)

Rejection Criteria

• Centrifuged specimens.
• Grossly hemolyzed specimens.
• Specimens not collected and processed as indicated.

Inpatient Specimen Preparation

Deliver specimen to the Laboratory immediately after collection for processing.

In-Lab Processing

Do not centrifuge or freeze. Refrigerate (2-8°C or 36-46°F) specimen in the original collection tube prior to transport.

Transport: 6.0 mL whole blood in original collection tube, refrigerated (2-8°C or 36-46°F). (Minimum: 5.0 mL)

Storage

Specimen Stability for Testing:

Room temperature (20-26°C or 68-78.8°F): 6 days
Refrigerated (2-8°C or 36-46°F): 6 days
Frozen (-20°C/-4°F or below): Unacceptable

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

Tuesday, Thursday, and alternating Fridays.
Results available in 5-9 days.

Reference Range

By report.

Test Methodology

Heat Inactivation, Fluorometric, Semiautomated.

Interpretation

By report.

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

83080 x2; add 81255 if appropriate.

Contacts

Last Updated

10/11/2023