Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.

ABSTRACT: Background/Objectives: Hereditary transthyretin amyloidosis (ATTRv) is a progressive and fatal disease with >130 known underlying variants in the TTR gene. We describe the utility of two no-charge genetic testing programs in identifying TTR variants in participants across Europe/Middle East and North America, respectively. Methods: Eligible adult participants in GeneAct^® and Alnylam Act^® had a family history or clinical suspicion of ATTRv. Testing was performed using gene panels for neuropathies or cardiomyopathy, or a single-gene TTR test. Diagnostic yield was defined as one pathogenic/likely pathogenic variant in TTR. Results: Overall, 2713 and 89,760 participants were tested in GeneAct^® and Alnylam Act

SUBMITTER: Singh A 

PROVIDER: S-EPMC12524576 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature