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BRCAplus®

BRCAplus is a guideline-based test option which includes genes known to have clinical management recommendations and treatment decisions for hereditary breast cancer predisposition.

BRCA Hereditary Breast Cancer Genetic Testing | BRCAplus

BRCAplus is a guideline-based test option which includes genes known to have clinical management recommendations and treatment decisions for hereditary breast cancer predisposition.

Genes included on the BRCAplus test are evaluated by next generation sequencing (NGS) of the coding exons and well into the flanking 5’ and 3’ ends of the introns and untranslated regions. Variants in regions complicated by pseudogene interference, variant calls not satisfying depth of coverage and variant allele frequency quality thresholds, and potentially homozygous variants are verified by Sanger sequencing. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of uncertain or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. ​ ​

Gross deletion/duplication analysis is performed for BRCAplus genes using a customized pipeline using a combination of third-party coverage-based tools and custom methodologies with confirmatory MLPA and/or targeted chromosomal microarray.

Genes analyzed
Code
Test Name
Turnaround
Genes
8836
BRCAplus®
4-7 days
13 Genes
BRCAplus®
13 Genes
ATM
BARD1
BRCA1
BRCA2
CDH1
CHEK2
NF1
PALB2
PTEN
RAD51C
RAD51D
STK11
TP53
Letter of Medical Necessity
BRCAplus®
(EN)
Test Requisition Form
Cancer (Abbreviated)
(EN)
Consent
Private: Genetic Testing for Hereditary Cancer Patient
(EN) (ES)
Reference Guide
Private: Hereditary Breast Cancer Testing
(EN)
Patient Guide
Hereditary Cancer Testing
(EN) (ES)
Why Is This Important?

Identifying patients with a genetic predisposition to cancer can allow informed recommendations and personalized medical management that significantly decrease cancer risks.

  • Option to modify frequency and initial age of mammogram and breast MRI
  • Consideration of prophylactic mastectomy or other risk-reducing measures, as appropriate
  • Option to tailor treatments (e.g. PARP inhibitors for BRCA1/BRCA2)
  • Identify at-risk family members
When To Consider Testing
  • Early-onset breast cancer (diagnosed <50 years of age)
  • Triple negative (ER-/PR-/HER2/neu-) breast cancer diagnosed at any age
  • Ovarian, Fallopian tube, or primary peritoneal cancer at any age
  • Bilateral or multiple primary breast cancers
  • Male breast cancer at any age
  • Ashkenazi Jewish descent with breast cancer at any age
  • 3 or more cases of breast and/or prostate cancer at any age in close relatives on the same side of the family
  • Known BRCA1 or BRCA2 mutation in the family
Mutation Detection Rate
>99.9%
BRCAplus
Can detect the described mutations in the included genes listed above, when present (analytic sensitivity).*

Test Description

Genes included on the BRCAplus test are evaluated by next generation sequencing (NGS) of the coding exons and well into the flanking 5’ and 3’ ends of the introns and untranslated regions. Variants in regions complicated by pseudogene interference, variant calls not satisfying depth of coverage and variant allele frequency quality thresholds, and potentially homozygous variants are verified by Sanger sequencing. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of uncertain or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. ​ ​

Gross deletion/duplication analysis is performed for BRCAplus genes using a customized pipeline using a combination of third-party coverage-based tools and custom methodologies with confirmatory MLPA and/or targeted chromosomal microarray.