Tay-Sachs Disease, Biochemical, Leukocytes

CPT: 83080
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Test Details


  • Beta-Hexosaminidase A and Total Beta-Hexosaminidase From Leukocytes
  • GM2 Gangliosidosis


Identification of Tay-Sachs disease gene carriers and affected individuals


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).


Determination of enzymatic activity using heat inactivation

Specimen Requirements


Whole blood


10 mL

Minimum Volume

5 mL


Yellow-top (ACD) tube


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.

Storage Instructions


Stability Requirements




4 days

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

Clinical Information

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.


Kaback MM. Thermal fractionation of serum hexosaminidases: Applications to heterozygote detection and diagnosis of Tay-Sachs disease. Methods Enzymol. 1972; 28:862-867.


Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
511246 Tay-Sachs Disease Leukocytes 511247 % Hex A % 23825-3
511246 Tay-Sachs Disease Leukocytes 511248 Total Activity nmol/hr/mg prot 24075-4
511246 Tay-Sachs Disease Leukocytes 511249 Tot Act of Norm Ctrl nmol/hr/mg prot N/A
511246 Tay-Sachs Disease Leukocytes 511250 Interpretation 53039-4
511246 Tay-Sachs Disease Leukocytes 511252 Director Review 72486-4
511246 Tay-Sachs Disease Leukocytes 510418 Methodology 49549-9
511246 Tay-Sachs Disease Leukocytes 402308 Disclaimer: N/A

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