Thrombocytopenia Genetic Analysis

CPT: 81406(x2); 81408; 81479
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Synonyms

  • Hereditary Thrombocytopenia

Test Includes

ACTN1, ADAMTS13, ANKRD26, CD36, CYCS, ETV6, FERMT3, FLI1, FLNA, GATA1, GFI1B, GNE, HOXA11, HRG, MPL, NBEA, NBEAL2, ORAI1, RBM8A, RUNX1, STIM1, STXBP2, THPO, TUBB1, VWF, WAS


Expected Turnaround Time

20 - 28 days



Related Documents

For more information, please view the literature below.

Procedures for Hemostasis and Thrombosis: A Clinical Test Compendium


    Specimen Requirements


    Specimen

    Whole blood; oral swab or extracted DNA (from blood or oral swab only)


    Volume

    Whole blood: 4 mL; oral swab: 3 swabs; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)


    Minimum Volume

    Whole blood: 2 mL; oral swab: 1 swab; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)


    Container

    Whole blood: lavender-top (EDTA) tube; oral swab: OCD-100 DNA Genotek; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)


    Collection

    Whole blood: standard phlebotomy; oral swab: follow kit instructions; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)


    Storage Instructions

    Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.


    Stability Requirements

    Room temperature: whole blood: 14 days; swab: 60 days

    Refrigerated: whole blood: 30 days; swab: 60 days

    Frozen: do not freeze


    Causes for Rejection

    Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container


    Test Details


    Use

    Diagnostic testing


    Limitations

    This assay will not consistently detect mosaicism or rule out the presence of large chromosomal aberrations, including rearrangements and inversions that do not change copy number of genomic regions. This NGS assay does not detect repeat expansions. False positive or false negative results may occur for reasons that include insufficient information available about rare genetic variants, sex chromosome abnormalities, pseudogene interference, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism/heteroplasmy, mislabeled samples or erroneous representation of family relationships. For panels with mitochondrial DNA assessment, low levels of heteroplasmy may not be reliably detected. Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting and by the quality and quantity of clinical information provided with the sample. The interpretation of the clinical significance of variants may change.

    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 to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs)


    LOINC® Map

    Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
    630461 Thrombocytopenia Genes 630462 Result 51969-4
    630461 Thrombocytopenia Genes 630463 Interpretation 50397-9
    630461 Thrombocytopenia Genes 630464 Footnotes 8251-1
    630461 Thrombocytopenia Genes 630465 PDF Image 80563-0

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