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 Name Description  Platform Catalogue Code
CFEU2v1 Detects the 50 most common mutations in the European population. Genetic Analyser CF2EUB2 More Information
CF4v2 Detects the 4 most common mutations in the European population. Genetic Analyser CF4HTB1 More Information
CF30v2 Detects the 29 most common mutations in the French population. Gel Based CF030B1 More Information
CF-DE Detects the 31 mutations outlined by the G-BA for newborn screening in Germany. Genetic Analyser CF1DEB2 More Information
CF Italia Bolt on to CFEU2v1 to increase the mutation coverage for the Italian population. Genetic Analyser CFITAB1 More Information
CF Iberian Bolt on to CFEU2v1 to increase the mutation coverage for the Iberian population. Genetic Analyser CFIBNB1 More Information
CF-UK Bolt on to CFEU2v1 to increase the mutation coverage for the British population. Genetic Analyser CF1UKB1 More Information
CF29v2 Detects the 29 most common mutations in the European population. Gel Based CF029B2 More Information
CF Poly-T Detects the polythymidine splice site alleles; 5T, 7T and 9T. Gel Based PT003B2 More Information

 

 

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