Hereditary amyloidosis is a group of rare autosomal dominant conditions characterised by amyloid accumulation impairing organ function. Hereditary transthyretin amyloidosis (ATTRv) – the most common type – is caused by >130 pathogenic variants in the TTR gene and presents with neurological and/or cardiac manifestations. Several disease modifying therapies for ATTRv are now available, making a proficient genetic diagnosis crucial for improved patient outcomes. We have established a global external quality assessment (EQA) scheme for TTR testing to assure diagnostic service quality.
The aim of this project was to establish an external quality assurance (EQA) scheme for hereditary amyloidosis to ensure consistency and accuracy of reporting across laboratories undertaking TTR gene testing.
