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 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.

  •  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

Whitepaper

Many testing strategies have been developed in laboratories across the world. Optimal strategies generally include what might be termed “level 1” and “level 2” testing. Until the recent application of next generation sequencing (NGS), no single-pass assay has been capable of routinely screening for all published CFTR mutations.

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Whitepapers

Whitepaper Picture NGS CFTR ANALYSIS

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.

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  • Product details

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Certificates

Download a specific Batch Release Certificate (BRC) below by entering the BATCH/LOT number and then click on "Find".

Whitepapers

Whitepaper Picture NGS CFTR ANALYSIS

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.

Product details

CE-IVD Certified Kits

Name
Scope
Pack Size
Article Number
Devyser CFTR Core
Detection of the following CFTR mutations: 711+1G>T, 3120+1G>A, 621+1G>T, 1717-1G>A, CFTRdele2,3(21kb), 3849+10kbC>T, 2789+5G>A, 1898+1G>A, G542X, G85E, Y1092X(C>A), G551D, R553X, 3659delC, N1303K, R560T, R117H, R1162X, L1077P, R117C, R1066C, L1065P, W1282X, R347H, R347P, I507del, T338I, F508del, I336K, 1677delTA, R334W, 3272-26A>G, 1078delT, 2183AA>G, 2184insA, 2143delT and corresponding wildtype alleles. IVS8: 5T (including identification of TG9-13), 7T, 9T
48
8-A031
Devyser CFTR Italia v2
Detection of the following CFTR mutations: 711+5A, 1898+3G, 2184delA, 4016insT, 4382delA, M1V, P5L, Q39X, D110E, D110H, G178R, R352Q, S549R(A>C), Q552X, D579G, E585X, R1066H, D1152H, R1158X, G1244E, CFTRdele1, CFTRdele2, CFTRdele2ins182, CFTRdele14b-17b, CFTRdele17a-18, CFTRdele22,23, CFTRdele22-24, 852del22, 1259insA, G1349D, c.1584+18672A>G and corresponding wild type alleles
48
8-A032.2
Devyser CFTR Iberia
Q1100P, M1101K, 1812-1G>A, 1609delCA, 1898+3A>G, R709X, V232D, S549R (T>G), L206W, P205S, H199Y, 712-1G>T, 2869insG, 1811+1,6kbA>G, Q890X and corresponding wild type alleles
48
8-A033
Devyser CFTR UK
Detection of the following CFTR mutations: E60X, P67L, Q98X, 621+2T>C, L218X, 1154insTC, 1161delC, 1525-1G>A, Q493X, V520F, S549N, Y569D, S589N, 1898+5G>T, D1152H, R1158X, R1283M and corresponding wild type alleles
48
8-A034

Research Use Only Kits

Name
Scope
Pack Size
Article Number
Devyser CFTR 68
Detection of the following CFTR mutations: 711+ 1G>T, 2043delG, 1677delTA, W1282X, R1283M, K710X, 3849+10kbC>T, 2789+5G>A, M1101K, G85E, 3905insT, 1525-1G>A, 2184delA, 3659delC, N1303K, 2184insA, 1812-1G->A, CFTRdele2,3, 2143delT, Y569D, R1162X, A561E, S1251N, P67L, R1158X, 1609delCA, Q493X, E60X, 1898+1G>A, 1898+5G>T, I507del, F508del, V520F, 394delTT, D1152H, V232D, L218X, 621+2T>C, 1717-1G>A, L206W, E92X, 3120+1G>A, G542X, S549N, G551D, 712-1G>T, R553X, 3272-26A>G, R560T, 2183AA>G, R117H, R117C, 1811+1.6kbA>G, 2869insG, Y122X, Q890X, R1066C, R347H, R347P, 1161delC, 1154ins TC, E92K, I336K, R334W, Y1092X (C>A), 621+1G>T, 1078delT, A455E and corresponding wildtype alleles. IVS8: 5T (including identification of TG9-13), 7T, 9T
48
8-A403
Devyser CFTR Core
Detection of the following CFTR mutations: 711+1G>T, 3120+1G>A, 621+1G>T, 1717-1G>A, CFTRdele2,3(21kb), 3849+10kbC>T, 2789+5G>A, 1898+1G>A, G542X, G85E, Y1092X(C>A), G551D, R553X, 3659delC, N1303K, R560T, R117H, R1162X, L1077P, R117C, R1066C, L1065P, W1282X, R347H, R347P, I507del, T338I, F508del, I336K, 1677delTA, R334W, 3272-26A>G, 1078delT, 2183AA>G, 2184insA, 2143delT and corresponding wildtype alleles. IVS8: 5T (including identification of TG9-13), 7T, 9T
48
8-A031-RUO
Devyser CFTR Iberia
Q1100P, M1101K, 1812-1G>A, 1609delCA, 1898+3A>G, R709X, V232D, S549R (T>G), L206W, P205S, H199Y, 712-1G>T, 2869insG, 1811+1,6kbA>G, Q890X and corresponding wild type alleles
48
8-A033-RUO
Devyser CFTR UK
Detection of the following CFTR mutations: E60X, P67L, Q98X, 621+2T>C, L218X, 1154insTC, 1161delC, 1525-1G>A, Q493X, V520F, S549N, Y569D, S589N, 1898+5G>T, D1152H, R1158X, R1283M and corresponding wild type alleles
48
8-A034-RUO

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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.

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