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Tay-Sachs Disease, Biochemical, Leukocytes

CPT: 83080
Updated on 08/31/2021
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Synonyms

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

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.


Expected Turnaround Time

4 - 14 days

8 - 14 days

4 - 14 days



Related Documents

For more information, please view the literature below.

Tay-Sachs Disease Screening Questionnaire


Specimen Requirements


Specimen

Whole blood


Volume

10 mL


Minimum Volume

5 mL


Container

Yellow-top (ACD) tube


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.


Storage Instructions

Refrigerate.


Stability Requirements

Temperature

Period

Refrigerated

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


Test Details


Use

Identification of Tay-Sachs disease gene carriers and affected individuals


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


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

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