Cystic Fibrosis Molecular Diagnostics

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 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.

Devyser CFTR – NGS has never been easier

• One tube per sample means no need for sample splitting
• Reduce hands-on time from days to under 45 minutes
• Direct detection of CNVs
• Detect all mutations in the coding regions of the CFTR gene
• Determination of poly-T and TG repeats
• Choice of several validated software options, including CNV analysis

Designed for routine NGS diagnostics

The Devyser CFTR kit is easy to implement and highly cost-effective, making it a good match for laboratories of any size. With ready-to-use reagents and a user-friendly workflow, it suites both manual and automated workflows. Devyser’s unique single-tube approach simplifies the workflow, reduces hands-on time and minimizes the risk of sample mix-up and contamination. The proprietary multiplex PCR primer chemistry provides full and uniform coverage of the CFTR gene.