CFTR - Allele Specific

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 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

Devyser CFTR Core Plus

  • Detects the 44 most common mutations found in multiethnic European populations
  • Detects poly-thymidine variants (5T/7T/9T) within intron 9 (IVS8) of the CFTR gene
  • In case of a 5T variant, also detects the TG repeat number
  • Fully compliant with the German EBM standard
  • For research use only

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.

  •  Detects the normal and mutant alleles at 31 loci of the CFTR gene using purified human genomic DNA
  • Genotype coverage includes a panel supporting the detection of mutations specifically found in the Italian population
  • Also includes analysis of cross-mix ID markers for sample identity confirmation between different Devyser CFTR products
  • Designed to genotype the normal and mutant alleles at 15 loci of the CFTR gene using purified human genomic DNA
  • Genotype coverage includes a panel supporting the detection of mutations specifically found in Spanish and Portuguese populations
  • Also includes the analysis of cross-mix ID markers for sample identity confirmation compatible with all Devyser CFTR products
  • Designed to genotype the normal and mutant alleles at 17 loci of the CFTR gene using purified human genomic DNA. 
  • Genotype coverage includes a panel of 17 mutations supporting the detection of mutations specifically found in the UK population, including common Celtic, Chinese and Pakistani mutations. 
  • Also includes the analysis of cross-mix ID markers for sample identity confirmation compatible with all Devyser CFTR products

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We are specialists when it comes to diagnostic kits for complex DNA testing within oncology, reproductive health and hereditary diseases. Our products are used to guide targeted cancer therapies, to enable rapid prenatal diagnostics, as well as in a wide array of genetic tests. Routine diagnostic laboratories in more than 50 countries worldwide use our products.