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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.
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/).
Interpretive report provided
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
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/sites/default/files/2020-01/file/pci-mmgl_infor….