Cystic Fibrosis

Screening the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene for common mutations is now routinely performed in many molecular genetics laboratories. Elucigene kits for cystic fibrosis genetic analysis are provided in two formats: a fluorescent format for high information content, or an agarose gel format for simplicity of use.

Analysis of mutations in the CFTR gene is now performed as part of disease diagnosis and carrier testing protocols. Further to standard clinical techniques (e.g. sweat test), detection of a mutation in both copies of an individual’s CFTR genes provides definitive confirmation of the disease state. While neonatal screening programs focus on IRT (immunoreactive trypsin) analysis, the sequential use of a DNA test (often for F508del) can increase diagnostic accuracy in individuals who screen IRT positive.

The large number of mutations identified to date and the probability of further novel CF mutations being discovered precludes routine testing for all mutations. However, advances in mutation detection now allow screening to identify carriers of the most prevalent mutations in selected populations.

Product Number Kit Name Notes
CF1ITB1 KIT, Eluci, CF-Italia, 25 T, IVD-CE 2 PCR tubes per sample, 14 mutations detected, Genetic Analyzer platform More Information
CF1DEB2 Kit, Eluci, CF-DE, 50T, IVD-CE 2 PCR tubes per sample, 31 mutations detected, Genetic Analyzer platform More Information
CF1UKB1 KIT, Eluci, CF UK, 25 T, IVD-CE 1 PCR tube per sample, 11 mutations detected, Genetic Analyzer platform More Information
CFIBNB1 KIT, Eluci, CF Iberian, 25 T, IVD-CE 1 PCR tube per sample, 12 mutations detected, Genetic Analyzer platform More Information
PT003B2 KIT, Eluci, CF Poly-T, 50 T, IVD-CE 1 PCR tube per sample, 3 mutations detected, Gel based platform More Information
CF4HTB1 KIT, Eluci, CF4v2, 25 T, IVD-CE 1 PCR tube per sample, 4 mutations detected, Genetic Analyzer platform More Information
CF029B2 KIT, Eluci, CF29v2, 50 T, IVD-CE 4 PCR tubes per sample, 29 mutations detected, Gel based platform More Information
CF030B1 KIT, Eluci, CF30v2, 25 T, IVD-CE 4 PCR tubes per sample, 29 mutations detected, Gel based platform More Information
CF2EUB2 KIT, Eluci, CFEU2v1, 50 T, IVD-CE 2 PCR tubes per sample, 50 mutations detected, Genetic Analyzer platform More Information