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Beaumont Laboratory

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

Instructions

  • 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)

Rejection Criteria

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

Storage

Specimen Stability for Testing:

Room temperature (20-26°C or 68-78.8°F): 4 days
Refrigerated (2-8°C or 36-46°F): 4 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 Sendout Laboratory with any questions. 

Laboratory

Sent to Mayo Medical Laboratories, Rochester, MN.

Performed

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

Reference Range

By report.

Test Methodology

Heat Inactivation, Fluorometric, Semiautomated.

Interpretation

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.

Clinical Utility

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.

CPT Code

83080x2.

Test Codes

MAYO: NAGW, Antrim #82350, EPIC: LAB6053, SOFT: XHEXL

Last Updated

06/07/2017

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This directory currently reflects information only for specimens collected and/or processed at the Farmington Hills, Grosse Pointe, Royal Oak, and Troy campuses.