MSH2 Targeted Sequencing, Familial

Test Overview

Test Methodology

The coding exon or a part of the coding exon containing the MSH2 familial mutation is amplified using specific primers and bidirectionally sequenced using a fluorescent method.

Test Usage

MSH2 targeted sequencing can be performed on a patient with a known familial mutation. If MHS2 sequencing that detected the familial mutation was not performed at MMGL Molecular Genetics Lab, then please send a copy of the clinical laboratory report that documents the familial mutation.

Reference Range*

Interpretive report provided.

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

Test Limitations

This analysis will not identify mutations in the regulatory elements, deep intronic regions or coding regions of MSH2 that are not covered by this targeted test. This assay may not detect large deletion or duplication mutations and balanced translocations involving MSH2 gene.

Test Details

Days Test Performed

Monday - Friday

Analytic Time

28 days

Soft Order Code

MSH2F

MiChart Code

MSH2 TARGETED SEQUENCING, FAMILIAL (MMGL)

Synonyms

MSH2F
Lynch Syndrome
Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

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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. If the previous testing of the proband was not performed by the MMGL laboratory, please also provide a copy of the clinical molecular genetics report issued by the CLIA-certified testing laboratory for the proband, patient or family member in which the mutation was previously detected. Obtaining informed consent from the patient (or legally authorized representative) 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

Normal Volume

5 - 10 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.