Sema4 Signal Hereditary Cancer BRCA Ashkenazi Jewish Panel


Related Gene(s): BRCA1, BRCA2

Hereditary breast and ovarian cancer (HBOC) is an autosomal dominant cancer predisposition syndrome caused by germline mutations in the genes BRCA1 and BRCA2. Mutations in these two highly-penetrant genes increase the chance for cancer of the breast, ovaries and Fallopian tubes, pancreas, and prostate.

BRCA1 and BRCA2 mutations are more common in individuals of Ashkenazi Jewish descent, with a carrier frequency of 1 in 40 people (2.6%) compared with a frequency of 1 in 500 people (0.2%) in the non-Ashkenazi general population. Three founder mutations: BRCA1 gene c.68_69delAG (BIC: 185delAG) and c.5266dupC (BIC: 5382insC) and BRCA2 c.5946delT (BIC: 6174delT) account for up to 99% of identified Ashkenazi Jewish BRCA mutations.

The BRCA Ashkenazi Jewish 3-Site Mutation Panel uses next-generation sequencing of BRCA1 and BRCA2 genes to detect the Ashkenazi Jewish founder mutations:

  • BRCA1 gene: c.68_69delAG (BIC: 185delAG) and c.5266dupC (BIC: 5382insC)
  • BRCA2 gene: c.5946delT (BIC: 6174delT)

Specimen Requirements

  • Whole blood: Two 4.5 mL EDTA tubes (lavender top)
  • For transfusion patients, please wait at least 2 weeks after a packed cell/platelet transfusion, and at least 4 weeks after a whole blood transfusion prior to blood draw for testing
  • For chemotherapy patients, the DNA quality may be affected if patient has received chemotherapy within the last 120 days. Sema4 may request an additional specimen if DNA quality is insufficient


  • Saliva: 2 mL of freshly-collected saliva in an Oragene container per kit’s specific instructions
  • Fill up to black line with 2 mL of saliva and close the lid. Once the lid is closed, it automatically adds 2 mL of buffer, for a total volume of 4 mL
  • Please note that 2 containers are required for all pediatric saliva testing kits


Saliva and blood are the most common specimen types we receive. For questions regarding other specimen types and requirements for patients with a significant medical history (including allogenic transplant and hematological diseases), please call us at 203-483-3459 to discuss before sample submission.

Ordering Information


  • Ship at room temperature
  • Ship to:
    62 Southfield Ave, Stamford, CT 06902
    Phone: 800-298-6470 / Fax: 646-859-6870


Turnaround Time

  • 14-21 days from receipt of specimen



Hereditary Cancer Requisition
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Hereditary Cancer Genetic Testing Consent
Hereditary Cancer Provider Brochure