Use

This test is used for the diagnosis of adult individuals suspected of having transthyretin-associated familial amyloidosis, which is an autosomal dominant disorder resulting from variants in the transthyretin gene. The presence of a gene variant may lead to unstable amyloidogenic transthyretin protein, causing progressive symptoms like sensorimotor neuropathy, cardiomyopathy, and more, often culminating in cardiac or kidney failure. Through mass spectrometry, this test evaluates the transthyretin protein structure, followed by DNA sequence analysis of the TTR gene for structural changes identified.