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Test Description

This test is performed by sequencing the entire BRCA2 gene using next-gen sequencing complemented by conventional Sanger sequencing or other molecular methodologies to detect point mutations, small insertions/deletions, and large deletions/duplications. This test maybe ordered separately or in combination with BRCA1. 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

Together, 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. BRCA2 mutation carrier status confers higher melanoma, pancreatic and male breast cancer risks but lower ovarian cancer risk compared to BRCA1 positive status.

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.