This test is used for carrier and diagnostic testing for Tay-Sachs disease.
Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions.
Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.
This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.
Immediately following collection, mix sample thoroughly by gentle inverting 8 - 10 times to prevent clotting
Yellow ACD-A
or
Lavender (EDTA), 4mL
Ambient (preferred) - 14 days
Refrigerated - 30 days
Next Generation Sequencing
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medical billing request form along with the sample.