CFTR mutation testing can be used in diagnosis of cystic fibrosis, male infertility caused by CBAVD, and acute recurrent or chronic pancreatitis. It can also be used to guide targeted therapies, and as an aid in newborn screening. More than 2,000 mutations and variants in the CFTR (cystic fibrosis transmembrane conductance regulator) gene have been described. The vast majority of these mutations have a population frequency below 0.1 % with high heterogeneity of mutation distribution between different ethnic groups. Devyser’s range of diagnostic CFTR kits enables allele specific detection as well as targeted, complete, CFTR gene sequencing using NGS for detection of all mutations, known and unknown, in a single test.
The Devyser CFTR kits are easy to implement and highly cost-effective, making them a good match for laboratories of any size. With ready-to-use reagents and a user-friendly workflow, they suit both manual and automated workflows.