Amyloidosis is caused by protein precipitation and the build-up of amyloid deposits. There are several forms of amyloidosis, each characterized by the particular protein forming the amyloid deposits. The MHI Molecular Diagnostic Laboratory is particularly interested in familial amyloidosis (ATTR) caused by the presence of variants in the TTR gene. Several variants of this gene have been identified and associated with a cardiomyopathy. The MHI Molecular Diagnostic Laboratory only reports the TTR gene for the amyloidosis profile.
PMID : 16186440, 2005
PMID : 21810866, 2011
Tested Genes :
| 1st intent | 2nd intent | 3rd intent |
|---|---|---|
| TTR | None | None |