BRCA 1/2 Sequencing and Del/Dup Analysis

 
Test code: GDB362

Related gene(s): BRCA1, BRCA2

Test description:

This panel analyzes the BRCA1 and BRCA2 genes which are associated with hereditary breast and ovarian cancer (HBOC). BRCA1 and BRCA2 account for up to 50% of all mutations responsible for HBOC. HBOC is an autosomal dominant disorder associated with increased risk for breast, ovarian, pancreatic, prostate and other cancers. There are NCCN Clinical Practice Guidelines In Oncology (NCCN Guidelines®) published which include recommendations for management of HBOC.1-2 Identification of a pathogenic/ likely pathogenic variant in these genes can help estimate cancer risk and guide treatment, screening, and/or prevention decisions for the patient.

Conditions:

  • Breast Cancer
  • Ovarian Cancer

 
Clinical utility:

  • Verification of a genetic basis for cancer in families indicative/suggestive of hereditary breast and ovarian cancer
  • Determination of appropriate screening and treatment
  • Identification of at-risk family members

 
Lab method:

  • Deletion/duplication analysis
  • Next-Gen sequencing

Specimen Requirements

  • Preferred: 2-5 mL Blood – Lavender Top Tube
  • Alternative: Buccal Swabs, Fibroblasts (separate charge for cell culture may apply)

Ordering Information

  • CPT code(s):* 81162×1
  • Turnaround Time:* 8-10 days


*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.


Resources

Hereditary Cancer Requisition
Hereditary Cancer Re-requisition
GeneDx Test Information Sheet (TIS)



1. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic V2.2021. National Comprehensive Cancer Network, Inc. 2021©. All rights reserved. Accessed,[5/18/2021]. To view the most recent and complete version of the guidelines, go online to NCCN.org.

2. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High-Risk Assessment: Colorectal V1.2021. National Comprehensive Cancer Network, Inc. 2021©. All rights reserved. Accessed, [5/18/2021]. To view the most recent and complete version of the guidelines, go online to NCCN.org.