Tepnel Life Sciences has launched a DNA test for the early detection of familial hypercholesterolemia (FH) in Europe. The CE-marked Elucigene FH20 kit, validated for in vitro diagnostic use, determines 20 genetic mutations that are most commonly found in a U.K.-based population, the company explains.
In a recent U.K. pilot study the test identified a 52% mutation detection rate in a sample of 110 FH heterozygous patients, Tepnel points out.
Early detection requires identification of genetic mutations of the low-density lipoprotein receptor (LDLR) gene, the apolipoprotein B-100 gene, or the proprotein converatse subtilisin/kexin type 9 gene, all causes of FH. Unlike some other genetic diseases where an affected patient must inherit two copies of the mutated gene, FH has an autosomal dominant pattern of inheritance and requires the affected patient to carry only one copy of the mutated gene. Testing has thus far been tedious and expensive due to the extremely heterogeneous nature of the LDLR gene, according to Tepnel.