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Test Catalog

Test ID: PMS2K    
PMS2 Gene, 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 testing of individuals with suspected diagnosis of Lynch syndrome/hereditary nonpolyposis colorectal cancer when a mutation in the PMS2 gene has been identified in an affected family member


Predictive testing of at-risk individuals when a mutation in the PMS2 gene has been identified in an affected 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 mutations 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) followed by DNA sequencing or gene dosage analysis by multiplex ligation-dependent probe amplification (MLPA) of the PMS2 gene is utilized to test for the presence of mutations 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

PMS2 Gene, Known Mutation

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

Hereditary Non-Polyposis Colorectal Cancer
Hereditary Non-Polyposis Colon Cancer
Colon Cancer Gene Testing
Constitutional Mismatch Repair Deficiency
Lynch Syndrome
Mismatch Repair