Reference Interval:
| Available Separately
| Components
| Reference Interval
| | No
| MSH6 Full Gene Sequencing
| By report
| | No
| MSH6 Deletions
| By report
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| Interpretive Data: |
This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.
Background Information for Lynch syndrome/Hereditary Nonpolyposis Colorectal Cancer (HNPCC):
Characteristics: Increased risk of colorectal and extra-colonic cancers including endometrial, renal pelvis, ureter, ovary, stomach, small intestine, and hepatobiliary tract.
Incidence: 1-2% of colorectal cancer is due to mismatch repair gene mutations.
Inheritance: Autosomal dominant
Penetrance: 80% lifetime risk of colorectal cancer; 20-60% risk for endometrial cancer.
Cause: Germline MLH1, MSH2, MSH6, and PMS2 gene mutations.
Methods: Bidirectional sequencing of MSH6 coding regions and intron-exon boundaries; multiplex ligation-dependent probe amplification (MLPA) to detect large MSH6 exonic deletions.
Test Limitations: Mutations in genes, other than MSH6, will not be detected. Intronic and regulatory MSH6 mutations will not be detected. Deletion breakpoints are not determined.
Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.
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| CPT Code(s): |
Sequencing portions: 83891 Isolation; 83898 x19 Amplification; 83904 x19 Sequencing; 83909 x2 Capillary electrophoresis; Del: 83896 Nucleic Acid Probes; 83898 Amplification; 83914 Extension; 83909 Capillary Electrophoresis; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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