NEW YORK (GenomeWeb News) – Tepnel Life Sciences said today that its DNA-based test for the early detection of familial hypercholesterolemia has received the CE Mark and has been commercially launched in Europe.
Manchester, England-based Tepnel said that the Elucigene FH20 kit can rapidly determine the 20 genetic mutations responsible for the disease that are most commonly found in a UK-based population.
The firm said the test has been cleared and launched in advance of a guidance document from the National Institute for Clinical Excellence in England that is expected to recommend that FH patients be offered a DNA test with subsequent screening to be performed if the mutations are identified in a patient.
Tepnel said that in a pilot study the test identified a 52 percent mutation detection rate in a sample of 110 FH heterozygous patients. “For effective treatment, early identification of persons with FH is essential and FH20 offers the [National Health Service] the right tool at the right time to implement the new clinical practice guidelines,” said Tepnel CEO Ben Matzilevich in a statement.
The test has not been cleared for clinical diagnostic use in the US, Tepnel noted.