Test Catalog

Test ID: BRAJ3    
BRCA1/BRCA2 Ashkenazi Jewish 3-Site Mutation Panel, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Establishing a diagnosis of hereditary breast and ovarian cancer (HBOC) in patients of Ashkenazi Jewish ancestry

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test utilizes targeted next-generation sequencing to detect the 3 Ashkenazi Jewish founder mutations, c.68_69delAG and c.5266dupC in BRCA1, and c.5946delT in BRCA2. These are also well-known by their previous nomenclature: c.185delAG and c.5385insC in BRCA1, and c.6174delT in BRCA2. Sanger sequencing may also be performed to confirm detected variants. Analysis is performed for the 3 Ashkenazi Jewish mutations only. This assay does not rule out presence of other mutations within BRCA1 or BRCA2.


Note: Analysis of the area surrounding the three Ashkenazi Jewish variants may be required in the performance of this assay, which could result in identification of additional variants. Contact the laboratory at 800-533-1710 with any questions regarding assay performance.


This test offers diagnostic or predictive testing for breast and ovarian cancer risk in a patient of Ashkenazi Jewish ancestry.


This test is appropriate for familial diagnostic or predictive testing for breast and ovarian cancer risk in a patient of Ashkenazi Jewish ancestry with a family member found to have 1 of the Ashkenazi Jewish founder mutations.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

BRCA Ashkenazi Jewish 3 Site Panel

Aliases Lists additional common names for a test, as an aid in searching

Breast and Ovarian Cancer
Breast Cancer
Ovarian Cancer
Hereditary Breast and Ovarian Cancer
Targeted Mutation Panel
Ashkenazi Jewish
Founder Mutations
Ashkenazi Jewish 3 Site
Ashkenazi Jewish 3 Site Panel
Ashkenazi Jewish Founder Mutations
3 Site
Three Site
Next Gen Sequencing