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BRCAssure: Ashkenazi Jewish Panel

CPT: 81212

Test Includes

Sequencing for the three known Ashkenazi Jewish founder mutations BRCA1 (c.68_69delAG and c.5266dupC) and BRCA2 (c.5946delT). These mutations are also known by their previous nomenlcature, namely 187delAG and 5382insC for the BRCA1 and 6174delT for the BRCA2 gene.

Special Instructions

A clinical questionnaire should be submitted with all specimens. Contact CMBP genetics services at 800-345-4363 to coordinate testing.

Expected Turnaround Time

14 - 28 days Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Specimen Requirements


Whole blood, saliva collected in an Oragene Dx collection kit


7 mL whole blood, 2 mL saliva

Minimum Volume

3 mL whole blood, 0.5 mL saliva


Lavender-top (EDTA) tube or yellow-top (ACD) tube


Blood is collected by routine phlebotomy. Saliva is collected by spitting into the provided container until it reaches the fill line.

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Frozen whole blood, serum or marrow; leaking tube; clotted blood or marrow; grossly hemolyzed specimen; incorrect anticoagulant

Test Details


To screen for three founder mutations in BRCA1 (c.68_69delAG and c.5266dupC) and BRCA2(c.5946delT) genes in Ashkenazi Jewish population. These mutations are also known by their previous nomenlcature, namely 187delAG and 5382insC for the BRCA1 and 6174delT for the BRCA2 gene.


Sequencing does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; deep intronic variants; it may be affected by allele-dropout; it may not allow determination of the exact numbers of T/A or microsatellite repeats; and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.


Sanger sequencing


American Society of Clinical Oncology. American Society of Clinical Oncology Policy Statement Update: Genetic testing for cancer susceptibility. J Clin Oncol. 2003 Jun 15; 21(12):2397-2406.PubMed 12692171 Ferla R, Calò V, Cascio S, et al. Founder mutations in BRCA1 and BRCA2 genes. Ann Oncol. 2007 Jun; 18(Suppl 6):vi93-vi98. PubMed 17591843 Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998 Mar; 62(3):676-689. PubMed 9497246 National Comprehensive Cancer Network. Clinical practice guidelines in oncology, genetic/familial high-risk assessment: breast and ovarian. Available at: 2010. Accessed May 29, 2013