Ashkenazi Jewish Breast Cancer Test

  • Panel Description
  • Test Description
  • CPT Codes
  • Gene Descriptions

Panel Description

The Ashkenazi Jewish Breast Cancer Test detects the presence of the following three mutations associated with breast cancer risk for individuals of Ashkenazi Jewish descent:

1. NM_007300.3:c.68_69del (p.Glu23Valfs*17)
     Legacy: BRCA1 185delAG or 187delAG

2. NM_007300.3:c.5329dup (p.Gln1777Profs*74)
     Legacy: BRCA1 5382insC or 5385insC or 5266dupC

3.NM_000059.3:c.5946del (p.Ser1982Argfs*22)
     Legacy: BRCA2 6174delT

Test Description

  • Rush / STAT
  • MCC
2 - 3 weeks
Call for details
BRCA1, BRCA2 ( 2 genes )
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
All laboratory tests have limitations. The results assume that the specimen received in the laboratory belongs to the named individual and that no mix-up or co-mingling of specimens has occurred. Positive results do not imply that there are no other pathogenic alterations in the patient's genome, and negative results do not rule out a genetic cause for the indication for testing. This assay assumes that any stated familial relationships are accurate. This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations. This assay will only analyze the variant(s) requested. It is possible that the nomenclature for the variants tested may be different from the requested variants due to nomenclature differences in different isoforms of the gene. It is very important to provide us the isoform (NM number) of the gene for every variant to be tested. Result interpretation assumes that the human reference sequences are correct at the queried loci. Result interpretation is based on the collected information available at the time of reporting. Additional information may exist in the future which will not be represented. Rarely, due to systematic chemical or computational issues, or human error, DNA variants may be missed. If a positive familial control specimen is not provided or available, rare errors may occur. Methodology - Next Generation Sequencing (NGS), Sanger Sequencing, quantitative PCR (qPCR), repeat-primed PCR (rpPCR), or multiplex ligation-dependent probe amplification (MLPA) is selected by the laboratory to provide optimal results. 

CPT Code 81162

NOTE:  The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.

Gene Descriptions

Gene Reason Reference
BRCA1 Heterozygous pathogenic variants in the BRCA1 gene are the most common cause of hereditary breast and ovarian cancer syndrome (HBOC). PubMed: 9497246, 12677558, 17416853, 20301425, 22846731, 26424758, 35683509
BRCA2 Autosomal dominant mutations in the BRCA2 gene are implicated in the hereditary breast and ovarian cancer syndrome (HBOC). Additionally, biallelic mutations in BRCA2 gene are associated with autosomal recessive Fanconi anemia Types B and D1 . PubMed: 12065746, 12677558, 9497246, 17416853, 18042939, 20301425, 22846731; PMC: 2267287, 26424758, 35683509