Devyser CFTR NGS
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 exons 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.
Coverage includes all exons and exon/intron junctions, the promoter region and several clinically relevant deep intronic mutations. Overlapping primer design is used to ascertain superior INDEL and primer site mutation coverage as well as downstream CNV analysis. In addition, the kit also allows analysis of poly-T variants along with the upstream TG-repeat region.
IFU and software settings
Enter access code found in the lower right corner of the label on the kit box.
Download a specific Batch Release Certificate (BRC) below by entering the BATCH/LOT number and then click on "Find".
NGS: Changing the Game in CFTR Analysis by Dr. Stewart Payne
This paper provides straightforward advice for laboratory professionals on how to implement NGS for routine CFTR diagnostics. Authored by Dr. Stewart Payne, Consultant medical scientist in the UK NHS, it includes useful sections on: CFTR testing strategies, level 1 and level 2 testing, NGS testing strategies, interpretation of CFTR mutation data, CFTR diagnostics and targeted therapies and much more.