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Test Catalog

Test ID: MLHKM    
MLH1 Known Mutation

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

Diagnostic or predictive testing when an MLH1 mutation has been identified in a family member

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

Documentation of the specific familial mutation(s) must be provided with the specimen in order to perform this test.

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


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)/DNA Sequencing or Dosage Analysis (multiplex ligation-dependent probe amplification [MLPA] or Southern blot analysis) is utilized to test for the presence of a specific mutation previously identified in an affected family member.
(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 Known Mutation

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

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