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 CHEK2 and PMS2 to avoid known pseudogene regions. All reported variants of potential clinical significance will be confirmed by a different technology or platform.
Use for the detection of germline pathogenic variants in patients at increased risk for breast and ovarian cancer. Gene list: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, STK11, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, TP53, FANCC, XRCC2.
Interpretive report provided.
This assay will not detect intronic mutations or copy number variants outside the region sequenced in the ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, STK11, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, TP53, FANCC, XRCC2 genes or mutations in other genes associated with these diseases will not be identified.
- HBOC Germline Panel, Comprehensive
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….
Insurance prior authorization may be needed for this genetic test. Please inquire with the patient's insurance company to determine if a prior authorization is necessary for payment. 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.