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- 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
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.
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
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.
|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|