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Turnaround Time
14 - 21 days (In some cases, additional time may be required for confirmatory or reflex tests.)
Use
This test is used for carrier and diagnostic testing for Tay-Sachs disease.
Special Instructions
If requesting full gene sequencing for multiple genes, order GeneSeq® PLUS [482370].
To test fetal specimens, including cord blood, order GeneSeq® PLUS, Fetal Analysis [482389].
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.
Limitations
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.
Methodology
Next Generation Sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).
Related Documents
For more information, please view the literature below.
Clinical Questionnaire for Inheritest® Carrier Screen and GeneSeq® PLUS
References
Rehder C, Bean LJH, Bick D, et al. Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Aug;23(8):1399-1415.33927380
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424.25741868
Specimen Requirements
Information on collection, storage, and volume
Specimen
Whole blood or Oragene Dx 500 saliva kit
Volume
8.5 mL whole blood or Oragene Dx saliva kit
Minimum Volume
3 mL whole blood or Oragene Dx saliva kit
Container
Yellow-top (ACD-A) tube or lavender-top (EDTA) tube or Oragene Dx 500 saliva collection kit
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Collection
Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to collection.