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Turnaround Time
10 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests.
Use
This test analyzes genes associated with breast, gynecologic and gastrointestinal cancers. The panel is designed to maximize diagnostic yield for individuals with a personal or family history of mixed cancers affecting multiple organ systems. It is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.
Special Instructions
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.
Test Includes
This test includes the following genes: AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, DICER1, EGFR, EPCAM, FH, FLCN, GREM1, HOXB13, KIT, LZTR1, MAX, MBD4, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NF1, NF2, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2 and VHL.
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 with 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 to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).
Confirmation of the presence and location of reportable variants is performed as needed based on stringent criteria using one of several validated orthogonal approaches.1
Specimen Requirements
Information on collection, storage, and volume
Specimen
Whole blood or Oragene Dx 500 saliva kit or ORAcollect Dx OCD-100 buccal swabs or genomic DNA (gDNA) extracted from non-fetal, non-tumor sources only
Volume
4 mL whole blood or Oragene Dx 500 saliva kit or 2 ORAcollect Dx OCD-100 buccal swabs or 5 micrograms (μg) of gDNA with a concentration of 50 ng/μL
Minimum Volume
3 mL whole blood or Oragene Dx 500 saliva kit or 2 ORAcollect Dx OCD-100 buccal swabs or 5 μg of extracted DNA at a minimum concentration of 50 ng/μL
Container
Lavender-top (EDTA) tube or Oragene Dx 500 saliva collection kit or ORAcollect Dx OCD-100 buccal swabs or 2 mL microcentrifuge tube with screw cap
Storage Instructions
For blood, saliva and buccal, maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
For gDNA, room temperature is preferred, or refrigerate at 4°C. Frozen also is accepted if shipped on ice packs.
Causes for Rejection
Hemolyzed; quantity not sufficient for analysis; improper container; improper storage temperature; specimen from an individual who has undergone allogeneic bone marrow transplant
Collection
Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.
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