Molecular Genetics TTR Sequencing

Transthyretin amyloidosis affects multiple systems and caused by mutations in the gene transthyretin (TTR).  This rare condition is inherited in an autosomal dominant pattern and the exact disease prevalence is not known.  The disease onset typically begins between 30-50 years of age with clinical symptoms including neuropathy and cardiomyopathy with arrhythmia.  The Sanger sequencing tests for all protein coding regions for this gene as well as the exon boundaries; the most common pathogenic variant for TTR associated with this condition is Val30Met.  Given the inheritance mechanism and late onset of the disease, it is recommended testing other family members for pathogenic variants.

Reasons for Referral:

• Clinical symptoms including: cardiac conduction block, cardiomyopathy, nephropathy, vitreous opacities.
• Family member testing.

For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.