The CE marked Elucigene FH20 kit, validated for in vitro diagnostic use, can rapidly determine the 20 genetic mutations most commonly found in a UK-based population, that are responsible for the disease, said Tepnel.
In a recent UK pilot study the test identified a 52% mutation detection rate in a sample of 110 familial hypercholesterolemia (FH) heterozygous patients. Following the confirmation of mutation status of an FH patient using the Elucigene FH20 assay, the new Tepnel test can be used to detect other previously undiagnosed family members with FH through cascade screening programs, according to Tepnel.
Ben Matzilevich, CEO of Tepnel, said: “The study findings validate Elucigene FH20 as a valuable component for future FH screening programs in the UK, providing a cost-efficient and simple method for confirming a person has inherited this deadly condition.”