Test Overview

Test Methodology

The promoter region, the coding exons, and the adjacent consensus splice sites of the MSH2 gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.

Test Usage

Analysis for the presence of MSH2 (OMIM: 609309) mutations in patients with a phenotype consistent with hereditary nonpolyposis colorectal cancer type 1 (HNPCC-1; OMIM: 120435), Muir-Torre syndrome (OMIM: 158320) or Mismatch repair cancer syndrome (OMIM: 276300).

Reference Range*

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Limitations

This assay will not detect large deletions in the MSH2 gene or intronic mutations outside the region sequenced in the MSH2 gene.

Test Details

Days Test Performed

Monday - Friday

Analytic Time

28 days

Soft Order Code

MSH2S

MiChart Code

MSH2 GENE SEQUENCING (MMGL)

Synonyms

Synonyms

MSH2S
Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
Lynch Syndrome
Muir-Torre Syndrome
Mismatch Repair Cancer Syndrome
HNPCC-1

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Laboratory

MMGL

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Specimen Requirements

Offsite Collection Instructions

Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….

Container

Lavender Top Tube

Normal Volume

5 mL EDTA whole blood

Minimum Volume

2 mL EDTA whole blood

Additional Information

By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.

Billing Information

Fee Codes


CPT Code

81295

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