Devyser offers a complete set of diagnostic kits for detection of CFTR mutations by allele specific analysis.
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 68
Detects 68 mutations, polyT tract and associated number of TG repeats- Only 2 mixes: one wild-type mix and one mutation mix
- Mutation mix also includes the wild-type allele for the F508 deletion to check its zygosity
- Cross-mix ID markers to detect sample mix-up
Devyser CFTR Core
- Detects the 36 most common mutations found in populations of European origin
- Detects polythymidine variants (5T/7T/9T) within intron 9 (IVS8) of the CFTR
- In case of a 5T variant, also detects the TG repeat number
- Runs on all Thermofisher/ABI capillary electrophoresis instruments * View full list of mutations detected in product details
Allele specific detection of common CFTR mutations
Devyser’s regional kits for allele specific detection of CFTR mutations rely on multiplex allele specific PCR amplification for detection of normal non-mutated (wild-type), and mutated alleles in the CFTR gene. Allele specific PCR amplification generates fluorescently labelled fragments that are analysed by capillary electrophoresis.
