BRCA1 and BRCA2 mutation analysis is performed by next-generation sequencing of all coding exons of the BRCA1 and BRCA2 genes to detect point mutations and small insertions/deletions. This test does not detect large deletions or duplications.
This test is specifically for tumor specimens; please see our Hereditary Cancer Testing menu for germline (peripheral blood) testing requirements.
BRCA1/2 Mutation Analysis for Tumors
- Next Generation Sequencing (NGS)
Specimen Requirements
FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Storage and Transportation
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. NYS clients please provide date and time of Collection.
CPT Code(s)*
81163x1
Turnaround time
14 Days
Level of Service
- Global
Integrations
Request electronic integrations →
New York Approved: Yes
*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.
Biomarkers
DNA Sequencing
| SNVs + Indels | |||||
|---|---|---|---|---|---|
| BRCA1 | BRCA2 | ||||
Last Updated: March 12, 2026