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Test Catalog

Test ID: MLH12    
MLH1/MSH2 Mutation Screen

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Useful For Suggests clinical disorders or settings where the test may be helpful

Establishing a diagnosis of Lynch syndrome/hereditary nonpolyposis colorectal cancer (HNPCC)


Detection of mutations in MLH1 and MSH2, the 2 most common genes associated with Lynch syndrome, when microsatellite instability and immunohistochemistry tumor testing is not possible


Identification of a familial MLH1 or MSH2 mutation to allow for predictive testing in family members

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

Prior Authorization is available for this assay; see Special Instructions.

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

See Hereditary Nonpolyposis Colorectal Cancer Testing Algorithm in Special Instructions.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis and Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

MLH1/MSH2 Mutation Screen

Aliases Lists additional common names for a test, as an aid in searching

Colon Cancer Gene Testing
Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
hMLH1 Genotyping
hMSH2 Genotyping
HNPCC (Hereditary Nonpolyposis Colorectal Cancer)
Lynch Syndrome