BRCA 1/2 Ashkenazi Founder Mutation Panel

 
Test code: GDB361

Related gene(s): BRCA1: c.68_69delAG and c.5266dupC, BRCA2: c.5946delT

Test description:

The BRCA1/2 Ashkenazi Founder Mutation Panel tests for the presence of most common founder variants in individuals of Ashkenazi Jewish descent associated with hereditary breast and ovarian cancer (HBOC). These variants account for up to 99% of identified BRCA mutations in these individuals. There are NCCN Guidelines® published which include recommendations for management of HBOC.1-2

Conditions:

  • Breast Cancer
  • Ovarian Cancer

 
Clinical utility:

  • Per NCCN Guidelines®, any woman of Ashkenazi Jewish ancestry who has been diagnosed with breast or ovarian cancer meets criteria for BRCA founder variant testing
  • Verification of a genetic basis for cancer in families indicative or suggestive of hereditary breast and ovarian cancer
  • Determination of appropriate screening and treatment
  • Identification of at-risk family members

 
Lab method:

  • Capillary 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):* 81212×1
  • 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.