Test ID: MLH12
MLH1/MSH2 Mutation Screen
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
Useful For Suggests clinical disorders or settings where the test may be helpful
An alternative approach to establishing a diagnosis of mismatch repair-related hereditary nonpolyposis colorectal cancer (HNPCC) (Lynch syndrome)
Detection of mutations in hMLH1 and hMSH2, the 2 most commonly affected genes in HNPCC, when microsatellite instability and immunohistochemistry tumor testing is not possible and when a diagnosis of HNPCC is suspected
Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)
| Test ID | Secondary ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|---|
| MLHDB | 89853 | MLH1/MSH2 Large Del/Dup, MLPA | No | Yes |
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
When this test is ordered, MLHDB/89853 MLH1/MSH2 Large Deletion/Duplication, MLPA will always be performed at an additional charge.
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
MLH12/83191: Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis
MLHDB/89853: 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
Aliases Lists additional common names for a test, as an aid in searching
Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
hMLH1 Genotyping
hMSH2 Genotyping
HNPCC (Hereditary Nonpolyposis Colorectal Cancer)
Lynch Syndrome
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