Tay-Sachs Disease, Biochemical, Leukocytes

TEST: 511246
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CPT: 83080
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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.

Expected Turnaround Time

4 - 14 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Documents

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 Food and Drug Administration.

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 450886 Hexosaminidase A Activity % 23825-3
511246 Tay-Sachs Disease Leukocytes 24075-4 450885 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 450887 Interpretation 8251-1
511246 Tay-Sachs Disease Leukocytes 24075-4 510418 Methodology 49549-9
511246 Tay-Sachs Disease Leukocytes 24075-4 512250 Disclaimer: N/A
511246 Tay-Sachs Disease Leukocytes 24075-4 450215 Comments 48767-8
511246 Tay-Sachs Disease Leukocytes 24075-4 450216 Expected Carrier range P/S 19147-8
511246 Tay-Sachs Disease Leukocytes 24075-4 450217 Expected Carrier Range WBC 19147-8
511246 Tay-Sachs Disease Leukocytes 24075-4 450218 Expected Non-Carrier Range P/S 19147-8
511246 Tay-Sachs Disease Leukocytes 24075-4 450219 Expected Non-Carrier Range WBC 19147-8
511246 Tay-Sachs Disease Leukocytes 24075-4 450888 Director Review 59462-2
511246 Tay-Sachs Disease Leukocytes 24075-4 450220 Specimen Type 31208-2
511246 Tay-Sachs Disease Leukocytes 24075-4 450221 Tay-Sachs Disease Analysis N/A

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CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2021, 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