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Test Description

This test is performed by sequencing the entire BRCA1 and BRCA2 genes using massive parallel sequencing complemented by conventional Sanger sequencing or other molecular methodologies to detect point mutations, small insertions/deletions, and large deletions/duplications. Tests for BRCA1 or BRCA2 may be ordered separately. Note: Patient and physician or genetic counselor signatures on the NeoGenomics Consent for Hereditary Cancer Genetic Testing form are required. Testing will be put on hold until signatures are received.

Clinical Significance

Germline mutations in BRCA1 and BRCA2 cause hereditary breast-ovarian cancer syndrome (HBOC) and account for approximately 5-10% of all breast cancer cases, 13-18% of ovarian cancer, and 90% of familial breast and ovarian cancer. Mutations confer increased risk for early onset breast cancer, multiple breast primaries, male breast cancer, epithelial ovarian, Fallopian tube, primary peritoneal, pancreatic, and prostate cancers. BRCA2 mutations are also associated with increased risk for melanoma. BRCA mutation frequency is increased in triple-negative breast cancer, especially among younger patients. Prevalence of mutations is approximately 1/300 for BRCA1 and 1/800 for BRCA2 in the general population, with certain groups having higher prevalence due to founder mutations. Genetic testing facilitates therapy selection, surveillance planning, and identification of at-risk family members. Counseling and testing guidelines are available from multiple professional groups.

Specimen Requirements

Peripheral blood: 5 mL in EDTA tube.

Storage and Transportation

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.

CPT Code(s)*
Turnaround Time

21 days

Level of Service

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.