Cystic Fibrosis

 

Since the discovery of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene in 1989, more than 2000 mutations have been described in patients with Cystic Fibrosis. Many of these mutations are rare, having been identified in only one patient and/or family. It is common practise to screen for the most common CFTR mutations first, as routine detection of all mutations is not cost-effective for many molecular genetics laboratories. Elucigene Diagnostics have produced a suite of diagnostic products targeting the most common CFTR mutations, providing maximum clinical coverage at a competitive price.

 

Kit NameDescription PlatformCatalogue Code
CFEU2v1Detects the 50 most common mutations in the European population.Genetic AnalyserCF2EUB2More Information
CF4v2Detects the 4 most common mutations in the European population.Genetic AnalyserCF4HTB1More Information
CF30v2Detects the 29 most common mutations in the French population.Gel BasedCF030B1More Information
CF-DEDetects the 31 mutations outlined by the G-BA for newborn screening in Germany.Genetic AnalyserCF1DEB2More Information
CF ItaliaBolt on to CFEU2v1 to increase the mutation coverage for the Italian population.Genetic AnalyserCFITAB1More Information
CF IberianBolt on to CFEU2v1 to increase the mutation coverage for the Iberian population.Genetic AnalyserCFIBNB1More Information
CF-UKBolt on to CFEU2v1 to increase the mutation coverage for the British population.Genetic AnalyserCF1UKB1More Information
CF29v2Detects the 29 most common mutations in the European population.Gel BasedCF029B2More Information
CF Poly-TDetects the polythymidine splice site alleles; 5T, 7T and 9T.Gel BasedPT003B2More Information