Reference Interval:
| Available Separately
| Components
| Reference Interval
| | No
| MSH2 Full Gene Sequencing
| By report
| | No
| MSH2 Deletions
| By report
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| Interpretive Data: |
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 MSH2 coding regions and intron-exon boundaries; multiplex ligation-dependent probe amplification (MLPA) to detect large MSH2 exonic deletions.
Test Limitations: Mutations in genes, other than MSH2, will not be detected. Intronic and regulatory MSH2 mutations will not be detected. Deletion breakpoints are not determined.
This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.
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 x20 Amplification; 83904 x20 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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