50 common European mutations
Reduced hands-on time
Customised GeneMarker report
Elucigene CF-EU2v1
Since the discovery of the CFTR gene in 1989, more than 1900 mutations and variants have been described. Many of these mutations are ‘private’, having been described only in one patient and/or family. Routine testing for all possible mutations is neither feasible nor cost effective and is therefore confined to testing for the most common mutations
CF-EU2v1 is the only commercially available pan- European cystic fibrosis testing kit designed specifically to address the most common mutations found across populations of European origin. The assay identifies 50 mutations in total and also analyses the intron 8 polyT tract with accurate measurement of the adjacent TG repeat
Intron 8 polyT variants
The polymorphic polythymidine tract at the junction of intron 8 and exon 9 influences transcription. The number of thymidine residues (5T, 7T or 9T) affects the splicing efficiency of exon 9. If the 5T allele is present, a proportion of exon 9 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 9. 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 9. Elucigene CF-EU2v1 is unique amongst commercially available assays in its ability to accurately identify the number of TG repeats in addition to polyT status
1. Joshua D. Groman et al. Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene is Pathogenic or Benign. Am J Hum Genet. 2004; 74(1): 176-179