Test Overview
Test Methodology

The entire coding sequences (exons plus 20 bp upstream and 20 bp downstream of each coding exon) of the targeted genes are captured, sequenced using NGS and aligned to the human reference genome. A minimum NGS coverage of 20X for all coding exons is achieved. Variants in the targeted regions that are of potential clinical significance, based on the ACMGG guidelines for interpretation of sequence variants (Richards et al. Genet Med 17(5):405-524, 2015), will be reported. Specific PCR amplifications are used to detect Alu repeat insertions within BRCA1 exon 10, and BRCA2 exons 3, 22, and 25. All reported variants of potential clinical significance will be confirmed by a different technology or platform.

Test Usage

Targeted NGS BRCA1 and BRCA2 sequencing analysis is used for the detection of germline pathogenic variants in patients at increased risk for breast, ovarian, prostate, or pancreatic cancer. Not all individuals with pathogenic BRCA1 or BRCA2 variants will have breast or ovarian cancer. Women with BRCA1 or BRCA2 pathogenic variants face an estimated 40-80% lifetime risk for breast cancer and 11-40% for ovarian cancer. In addition, men with BRCA1 or BRCA2 pathogenic variants face an estimated 1-10% lifetime risk for breast cancer (Ford et al. Am J Hum Genet 62:676-689, 1998; Antoniou et al. J Med Genet 42:602-603, 2002; Antoniou et al. Am J Hum Genet 72:1117-1130, 2003; http://www.ncbi.nlm.nih.gov/books/NBK1247/). Other types of cancers have also been reported in individuals with pathogenic BRCA1 and BRCA2 variants (http://www.ncbi.nlm.nih.gov/books/NBK1247/).

Reference Range *

Interpretive report provided

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Limitations

This assay will not detect large deletions in the BRCA1 or BRCA2 genes, intronic variants outside the region sequenced in the BRCA1 and BRCA2 genes, or variants in other genes associated with these diseases will not be identified.

Test Details
Days Set Up
Monday - Friday
Analytic Time

28 days

Soft Order Code
MiChart Code
MMGL Molecular Genetics
Specimen Requirements
Collection Instructions

Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/media/188.

Normal Volume
5 - 10 mL EDTA whole blood
Minimum Volume
5 mL EDTA whole blood
Additional Information

Most insurance carriers require prior authorization for payment. BRCA testing will not begin until insurance prior authorization is received by the MMGL Laboratory or it has been confirmed that prior authorization is not required. It is the obligation of the ordering health care provider to obtain prior authorization before testing can begin. To obtain BCN prior authorization call Joint Venture Hospital Laboratories (JVHL) at 800-445-4979; for all others insurances, contact the plan directly. By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.

CPT Code
Fee Code
Pro Fee CPT