BRCANext-Expanded includes 21-genes associated with hereditary breast and/or gynecologic cancers.
Quick Reference
Test Code 8860
Turnaround Time (TAT) 14-21 days
Number of Genes 21

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We offer family variant testing at no additional cost

We offer family variant testing for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing or exome sequencing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. Testing must be completed within 90 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives. If you or a family member are interested in learning more about our family testing program or when family testing may be clinically indicated, please contact us or your provider for additional information. Note that Ambry can only provide such family testing services to patients receiving medical care in the U.S or US territories.

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Why Is This Important?

  1. Option to modify frequency and initial age of surveillance for various cancers (e.g. mammogram and breast MRI)
  2. Consideration of prophylactic oophorectomy or mastectomy, or other risk-reducing measures, as appropriate
  3. Option to tailor treatments (e.g. PARP inhibitors for patients with a  BRCA1 or BRCA2 mutation)
  4. Identify at-risk family members

When To Consider Testing

  • Cancer histories that are suspicious for both hereditary breast and ovarian cancer and Lynch syndrome
  • Ashkenazi Jewish ancestry and breast cancer
  • Multiple close family members with breast, uterine, and/or other related cancers (on the same side of the family)
  • Multiple primary cancers in one person (e.g. uterine and breast or thyroid cancer)
  • Abnormal MSI/IHC 
  • Breast cancer diagnosed before 45y, triple negative breast cancer before 60y, or uterine cancer diagnosed before 50y
  • Ovarian, pancreatic, male breast, or metastatic prostate cancer at any age

Test Description

BRCANext-Expanded analyzes 21 genes (listed above). These genes (excluding EPCAM) are evaluated by next generation sequencing (NGS) or Sanger sequencing of all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. The inversion of coding exons 1-7 of the MSH2 gene and the BRCA2 Portuguese founder mutation, c.156_157insAlu (also known as 384insAlu) are detected by NGS and confirmed by MLPA. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of unknown or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. Additional Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection.  Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality thresholds are verified by Sanger sequencing. Gross deletion/duplication analysis is performed for the covered exons and untranslated regions of all sequenced genes using read-depth from NGS data with confirmatory multiplex ligation-dependent probe amplification (MLPA) and/or targeted chromosomal microarray. For EPCAM, only gross deletions encompassing the 3’ end of the gene are reported. Gross deletion/duplication analysis of PMS2 is performed using MLPA. If a deletion is detected in exons 13, 14, or 15 of PMS2, double stranded sequencing of the appropriate exon(s) of the pseudogene, PMS2CL, will be performed to determine if the deletion is located in the PMS2 gene or pseudogene. 

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