| Interpretive Data: |
Background Information for HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication:
Characteristics: Increased risk of colorectal and extra-colonic cancers including endometrial, renal pelvis, ureter, ovary, stomach, small intestine, and hepatobiliary tract.
Incidence: 1-2 percent of colorectal cancer is due to mismatch repair gene mutations.
Inheritance: Autosomal dominant
Penetranceof MSH6 Mutations: Risk of colorectal cancer is 40 percent in men and 20 percent in women up to age 80. Women also have a 40 percent risk for endometrial cancer up to age 80.
Cause: Pathogenic germline MLH1, MSH2, MSH6, and PMS2 gene mutations.
Gene Tested: MSH6
Clinical Sensitivity: Approximately 5 percent of Lynch syndrome is due to MSH6 mutations.
Methodology: Bidirectional sequencing of MSH6 coding regions and intron-exon boundaries; multiplex ligation-dependent probe amplification (MLPA) to detect large MSH6 exonic deletions.
Test Limitations: Rare diagnostic errors can occur due to primer and probe site mutations. The breakpoints of large deletions/duplications will not be determined. Regulatory region, deep intronic mutations and mutations in genes other than MSH6 will not be detected.
This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
Sequencing: 83891 Isolation; 83898 x19 Amplification; 83904 x19 Sequencing; 83909 x2 Capillary electrophoresis.
Del: 83896 x10 Nucleic Acid Probes; 83898 x10 Amplification; 83914 x10 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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Cross References: |
HNPCC/Lynch Syndrome (MSH6) (HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication)
, Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication (HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication)
, MSH6 Sequencing and Deletion/Duplication (HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication)
, MSH6 Full Gene Analysis (HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication)
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