28 days
Test Updated:
HBOC Germline Panel, Comprehensive
ATM
BARD1
BRCA1
BRCA2
BRIP1
CDH1
STK11
CHEK2
EPCAM
MLH1
MSH2
MSH6
NBN
PALB2
PMS2
PTEN
RAD51C
RAD51D
TP53
FANCC
XRCC2
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Test Overview
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.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Specimen Requirements
Collect specimen in a lavender top tube. Send intact specimen to the lab within 24 hours. 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 by contacting the MMGL Molecular Genetics Laboratory at 615-2429 during business hours Monday - Friday or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….
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….
