Tay-Sachs Disease, Biochemical

CPT: 83080
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Test Details

Synonyms

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

Use

Determine Tay-Sachs carrier and affected status. This serum assay should not be performed on women who are pregnant or who are taking oral contraceptives. Identification of Sandhoff carrier and affected status. May be used in the diagnosis of I-cell disease.

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.

Methodology

Determination of enzymatic activity using heat inactivation

Contraindications

This assay should not be performed on women who are pregnant or who are taking oral contraceptives.

Specimen Requirements

Specimen

Serum, frozen

Volume

3 mL

Minimum Volume

1 mL

Container

Red-top tube

Collection

Separate serum from cells within 30 minutes of collection. Transfer specimen to a plastic transport tube before freezing. To avoid delays in turnaround time when requesting multiple tests on frozen samples, please submit separate frozen specimens for each test requested.

Storage Instructions

Freeze

Stability Requirements

Temperature

Period

Frozen

1 month

Causes for Rejection

Quantity not sufficient for analysis; thawed specimen

Clinical Information

Special Instructions

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.

References

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

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
510412 Tay-Sachs, Biochemical, Serum 510414 % Hex A % 12914-8
510412 Tay-Sachs, Biochemical, Serum 510415 Total Activity nmol/hr/mL 2643-5
510412 Tay-Sachs, Biochemical, Serum 510416 Tot Act of Norm Ctrl nmol/hr/mL N/A
510412 Tay-Sachs, Biochemical, Serum 510417 Results: N/A
510412 Tay-Sachs, Biochemical, Serum 510419 Director Review 72486-4
510412 Tay-Sachs, Biochemical, Serum 510418 Methodology 49549-9

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