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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. Copy Number variation is assessed by coverage depth within the targeted regions compared to a normalized set of controls. Copy number variants within the targeted regions that are of potential clinical significance will also be reported. In addition to NGS, Sanger sequencing is used to amplify and sequence MLH1 and MSH2 promoter regions and PMS2 to avoid known pseudogene regions. All reported variants of potential clinical significance will be confirmed by a different technology or platform.
Targeted NGS MLH1, MSH2, MSH6, and PMS2 sequencing and deletion/duplication analysis is used for the detection of germline pathogenic variants in patients at increased risk for hereditary colorectal cancer and cancers of the endometrium, stomach, ovary, small bowel, hepatobiliary tract, urinary tract, brain, and skin. Not all individuals with pathogenic MLH1, MSH2, MSH6, or PMS2 variants will have hereditary colorectal cancer. Patients with such pathogenic variants face an estimated 52-82% for colorectal cancer; 25-60% for endometrial cancer in women; 6-13% for gastric cancer; and 4-12% for ovarian cancer. Other types of cancers have also been reported in individuals with pathogenic MLH1, MSH2, MSH6, or PMS2 variants (https://www.ncbi.nlm.nih.gov/books/NBK1211/).
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….