Test ID: MSH6K
MSH6 Known Mutation
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
Diagnostic or predictive testing for mismatch repair-related hereditary nonpolyposis colorectal cancer (Lynch syndrome) when an hMSH6 mutation has been identified in an affected family member
Reflex Tests
Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)
| Test ID | Secondary ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|---|
| FUSEQ | 82555 | DNA Sequence, Follow-up Analysis | No | No |
| MSH6L | 88893 | MSH6 Large Del/Dup | No | No |
Testing Algorithm
Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
When this test is ordered, either DNA sequencing follow up analysis or MSH6 large deletion/duplication testing will be performed and charged dependent upon the type of mutation previously identified in the family.
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
Aliases
Lists additional common names for a test, as an aid in searching
Hereditary Non-Polyposis
hMSH6 genotyping
HNPCC
HNPCC testing
Lynch Syndrome
MSH6 gene testing


