ARUP's Laboratory Test Directory

HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication : 0051654
[ image for: Patient History for HNPCC/Lynch Syndrome Testing]
Patient History for HNPCC/Lynch Syndrome Testing
[ image for: Additional Technical Information]
Additional Technical Information


Mnemonic: MSH2 FGA

Ordering Recommendation: Detect germline MSH2 mutations, diagnostic for Lynch syndrome.
Methodology: Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed: Varies
Reported: Within 35 days
Specimen Required: 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.

Stability (collection to initiation of testing): 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: Rare diagnostic errors can occur due to primer and probe site mutations. 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
CPT Code(s): 81295, 81297
Cross References: Lynch Syndrome (HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication) , MSH2 (HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication)