Tay-Sachs Disease Enzyme Analysis (Hexosaminidase-A) (Leukocytes)

CPT 83080
Synonyms
  • Beta-Hexosaminidase A and Total Beta-Hexosaminidase From Leukocytes
  • GM2 Gangliosidosis

Test Details

Use

Identification of Tay-Sachs disease gene carriers and affected individuals

Special Instructions

Specimens must arrive in lab within four days of collection. A completed Tay-Sachs Disease Screening Questionnaires must accompany specimens. Call 800-345-4363 to request forms, or print the form from the Genetics Appendix online.

Limitations

This assay may not detect patients or carriers of rare variants of Tay-Sachs disease such as the B-1 variant or the activator protein deficiency.

This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).

Methodology

Determination of enzymatic activity using heat inactivation

Related Documents

For more information, please view the literature below.

Tay-Sachs Disease Screening Questionnaire

Specimen Requirements

Information on collection, storage, and volume

Specimen

Whole blood

Volume

10 mL

Minimum Volume

5 mL

Container

Yellow-top (ACD) tube

Storage Instructions

Refrigerate.

Causes for Rejection

Quantity not sufficient for analysis; frozen specimen; specimen not received within fours days of collection; incorrect specimen collection tube; gross hemolysis; unable to isolate viable white blood cells

Collection

Refrigerate after collection. Transport to the testing lab using cool pack or LabCorp transport kit. Do not allow sample to freeze. Sample must arrive in the laboratory within four days of collection.