HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication
0051654
Ordering Recommendation
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.
Mnemonic
MSH2 FGA
Methodology
Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
Within 35 days  
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
  
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
  
Remarks
  
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
 
 
Available Separately Components Reference Interval
No MSH2 Full Gene Sequencing By report
No MSH2 Deletions By report
Interpretive Data
Background Information for HNPCC/Lynch syndrome (MSH2) 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
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 at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS  
Note
 
CPT Code(s)
81295, 81297
Components
Component Test Code*Component Chart Name
0051653MSH2 Full Gene Analysis
2001367MSH2 FGA Specimen
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Aliases