Detect germline MSH2 mutations. Use in MMR-deficient carcinoma with suggestive IHC (loss of MSH2 and MSH6 protein). Detects large MSH2 deletions and EPCAM 3 prime deletions.
- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 2 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
|Available Separately||Components||Reference Interval|
|No||MSH2 Full Gene Sequencing||By report|
|No||MSH2 Deletions||By report|
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
Penetrance: 80 percent lifetime risk of colorectal cancer; 20-60 percent risk for endometrial cancer.
Cause: Pathogenic Germline MLH1, MSH2, MSH6, and PMS2 gene mutations.
Gene tested: MSH2
Clinical Sensitivity: 40 percent of Lynch syndrome cases are due to MSH2 mutations
Methodology: Bidirectional sequencing of MSH2 coding regions and intron-exon boundaries; multiplex ligation-dependent probe amplification (MLPA) to detect large MSH2 exonic deletions and EPCAM (TACSTD1) exon 9 deletions.
Analytical Sensitivity & Specificity: 99 percent.
Test Limitations:Diagnostic errors can occur due to rare sequence variations. The breakpoints of large deletions/duplications will not be determined. Regulatory region mutations, deep intronic mutations and mutations in genes other than MSH2 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.
|Component Test Code*||Component Chart Name||LOINC|
|0051653||MSH2 Full Gene Analysis|
|2001367||MSH2 FGA Specimen|
- MSH2 gene testing
- MSH2 genotyping
- MSH2 germline mutation assay