The SeqPro Lipo IS, an assay for the genetic diagnosis of familial hypercholesterolemia (FH), from Progenika Biopharma, Barcelona, Spain, has been granted the CE mark.
According to the company, the kit is the first to be approved for the diagnosis of FH using next-generation sequencing technology.
FH is characterized by high levels of low-density lipoprotein cholesterol, and affects one person out of 300, making it the most common genetic cause of premature cardiovascular disease. Progenika’s assay was developed to improve the efficiency of genetic diagnostics laboratories by enabling the sequencing of all six known genes associated with this condition, including APOB, APOE, LDLR, LDLRAP1, PCSK9, and STAP1.
During test development, Progenika achieved simultaneous sequencing of the six genes in 96 patients during a single run of the Illumina MiSeq sequencer, with reduced operating time and greater reliability.
For more information, visit Progenika.
