Elucigene CF29v2

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.

Elucigene CF29v2 has been developed to provide laboratories with a simple and accurate means of routinely testing for 29 of the most prevalent mutations in the European Caucasian population and Ashkenazi Jews. Genotype information for F508del makes the test highly valuable in both disease diagnosis and screening applications. Elucigene CF Poly-T (Cat No. PT003B2) is available separately for reflex testing R117H positive patients to investigate CBAVD status.

Elucigene CF29v2 is supplied as four optimised ARMS primer multiplexes for the rapid detection of 29 common CFTR mutations.