Test Directory

• BRCA1
• BRCA2

This test analyzes the BRCA1 and BRCA2 genes, which are associated with adult-onset hereditary breast and ovarian cancer syndrome (HBOC). Genetic testing of these genes may help confirm a clinical diagnosis, help predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials.

This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

Specimen Type: Whole Blood

Alternate Specimen Type: Saliva

Collection Container: Lavender Top (EDTA)

Alternate Collection Container: Oragene Dx 500 saliva collection kit

Desired Specimen Volume: 4 mL whole blood

Alternate Specimen Volume: 2 mL saliva

1. Collect 2 lavender top (EDTA) tubes via venipuncture.

1. Transport 4 mL of whole blood in the original collection containers.
2. Label specimens with room temperature stickers.
3. Test orders should include an attestation that the provider has the patient's informed consent for genetic testing.

Do not eat, drink, smoke, or chew gum 30 min prior to saliva sample collection. See Oragene Dx 500 saliva kit for detailed instructions.

Transport to the laboratory at room temperature.

• Hemolyzed
• Specimen from an individual who has undergone allogeneic bone marrow transplant

 See patient report.

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.

Specimens from individuals who have received transfusions of packed red blood cells, plasma or platelets are acceptable, however the likelihood of failure to produce a test result may be higher if the white blood cell concentration in the specimen is reduced.

• BRCA1 and BRCA2 Genes
• Hereditary breast and ovarian cancer syndrome (HBOC)
• Invitae BRCA1 and BRCA2 Panel