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Test ID: MLHMS    
MLH1 Mutation Screen

Secondary ID A test code used for billing and in test definitions created prior to November 2011

83015

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

Yes

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

Determining whether absence of MLH1 protein, by immunohistochemistry in tumor tissue, is associated with a germline mutation in the affected individual

 

Establishing a diagnosis of Lynch syndrome/hereditary nonpolyposis colorectal cancer

 

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

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 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
HNPCC (Hereditary Nonpolyposis Colorectal Cancer) Gene Testing
Lynch Syndrome
MLH1 Gene Testing