Within defined geographical populations and ethnic groups, there are variations in the predominant mutations. To address this variation, Yourgene provides a range of CE-IVD products designed specifically for these populations and groups. The kits use Quantitative Fluorescence-Polymerase Chain Reaction (QF-PCR) technology and genetic analysers to detect point mutations, insertions or deletions in DNA.
Yourgene® Cystic Fibrosis Base is a pan-European CF testing kit designed specifically to address the most common mutations found across populations of European origin. Alongside this assay, Yourgene Health offer a number of population-specific bolt-on panels, as well as bespoke offerings for national programs. The assay is designed with all clinically relevant diagnostic scenarios in mind, including newborn screening and male factor infertility testing.
The Yourgene® Cystic Fibrosis Base assay identifies 50 mutations in total, and also analyses the intron 9 polyT tract with accurate measurement of the adjacent TG repeat. The polyT tract at the junction of intron 9 and exon 10 influences transcription. Specifically, the number of thymidine residues (5T, 7T or 9T) affects the splicing efficiency of exon 10. If the 5T allele is present, a proportion of exon 10 transcripts will be absent resulting in non-functional protein and variable CF symptoms. It is reported that the number of TG repeats upstream of the polythymidine tract can also influence splicing of exon 10. If present on the same allele as the 5T variant (cis) the larger the number of TG repeats, the higher the proportion of CFTR transcripts will lack exon 10. The CF range is unique amongst commercially available assays in its ability to accurately identify the number of TG repeats in addition to polyT status.