Tay-Sachs Disease, Biochemical, Leukocytes

CPT: 83080
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Test Details

Synonyms

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

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.

Methodology

Determination of enzymatic activity using heat inactivation

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

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.

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 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

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The LOINC® codes are copyright © 1994-2017, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf