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50 common European mutations
Reduced hands-on time
Customised GeneMarker report

CE-IVD

Elucigene CF-EU2v1
Since the discovery of the CFTR gene in 1989, more than 1900 mutations and variants have been described. Many of these mutations are ‘private’, having been described only in one patient and/or family. Routine testing for all possible mutations is neither feasible nor cost effective and is therefore confined to testing for the most common mutations.

The CFEU2 kit is now validated for use with the SeqStudio Genetic Analyser

CF-EU2v1 is the only commercially available pan- European cystic fibrosis testing kit designed specifically to address the most common mutations found across populations of European origin. The assay identifies 50 mutations in total and also analyses the intron 8 polyT tract with accurate measurement of the adjacent TG repeat.

Intron 8 polyT variants
The polymorphic polythymidine tract at the junction of intron 8 and exon 9 influences transcription. The number of thymidine residues (5T, 7T or 9T) affects the splicing efficiency of exon 9. If the 5T allele is present, a proportion of exon 9 transcripts will be absent resulting in non-functional protein and variable CF symptoms. It is reported that the number of TG repeats upstream of the polythymidine tract can also influence splicing of exon 9. If present on the same allele as the 5T variant (cis) the larger the number of TG repeats, the higher the proportion of CFTR transcripts will lack exon 9. Elucigene CF-EU2v1 is unique amongst commercially available assays in its ability to accurately identify the number of TG repeats in addition to polyT status.

1. Joshua D. Groman et al. Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene is Pathogenic or Benign. Am J Hum Genet. 2004; 74(1): 176-179

One PCR Illustration

One PCR

  • One or two tube analysis
  • Tube A: mutation detection and polyT status
  • Tube B: wildtype detection
  • Simple PCR set-up
  • Reduced hands on time
One Analysis Illustration

One Analysis

  • No post-PCR manipulation
  • Compatible with ABI 3*** and SeqStudio Genetic Analysers
  • Highly multiplexed 5 dye chemistry
  • Rapid Analysis
One Report Illustration

One Report

  • GeneMarker software application
  • Easy data review and analysis
  • Informative single page reporting
  • No data transfer required
 

View Mutations detected by CF-EU2v1

Mutations detected by CF-EU2v1

CFTRdele2,3

R334W

R553X

R1066C

E60X

R347P

R560T

Y1092X(C>A)

P67L

R347H

1811+1.6kbA>G

M1101K

G85E

A455E

1898+1G>A

D1152H

394delTT

l507del

2143delT

R1158X

444delA

F508del

2184delA

R1162X

R117C

1677delTA

2347delG

3659delC

R117H

V520F

W846X

3849+10KbC>T

Y122X

1717-1G>A

2789+5G>A

S1251N

621+1G>T G542X Q890X 3905insT
711+1G>T S549N 3120+1G>A W1282X
L206W S549R (T>G) 3272-26A>G N1303K
1078delT G551D Intron 8 polyT (5T/7T/9T) and TGn

 

Recent publications highlighting the application and value of the Cystic Fibrosis product line

  1. Genes. 2020 June 4. DOI: 10.3390/genes11060619. Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges. Bienvenu T, Lopez M, Girodon E.
  2. Int J Neonatal Screen. 2019 September 3. DOI: 10.3390/ijns5030032. Initial Evaluation of Prospective and Parallel Assessments of Cystic Fibrosis Newborn Screening Protocols in Eastern Andalusia: IRT/IRT versus IRT/PAP/IRT. Sadik I, Pérez de Algaba I, Jiménez R, Benito C, Blasco-Alonso J, Caro P, ... & Yahyaoui R.
  3. Balkan Journal of Medical Genetics. 2019 August 28. DOI: 10.2478/bjmg-2019-0009. Cystic Fibrosis Mutation Spectrum in North Macedonia: A Step Towards Personalized Therapy. Terzic M, Jakimovska M, Fustik S, Jakovska T, Sukarova-Stefanovska E, & Plaseska-Karanfilska D.
  4. Mol Genet Genomic Med. 2019 June 27. DOI: 10.1002/mgg3.696. Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients. Petrova G, Yaneva N, Hrbková J, Libik M, Savov A, & Macek Jr M.
  5. Pediatr. Pulmonol. 2019 January 4. DOI: 10.1002/ppul.24227. Comparison of two sweat test systems for the diagnosis of cystic fibrosis in newborns. Rueegg C.S, Kuehni C.E, Gallati S, Jurca M, Jung A, Casaulta C, … & Swiss Cystic Fibrosis Screening Group.
  6. Int J Neonatal Screen. 2018 June 29. DOI: 10.3390/ijns4030022. Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies. Marcão A, Barreto C, Pereira L, Vaz L. G, Cavaco J, Casimiro A, ... & Vilarinho L.

Ordering Information

Kit NameDescriptionPlatformCatalogue Code 

CFEU2v1

Detects the 50 most common mutations in the European population.

Genetic Analyser

CF2EUB2

More Info

CF4v2

Detects the 4 most common mutations in the European population.

Genetic Analyser

CF4HTB1

More Info

CF30v2

Detects the 29 most common mutations in the French population.

Gel Based

CF030B1

More Info

CF-DE

Detects the 31 mutations outlined by the G-BA for newborn screening in Germany.

Genetic Analyser

CF1DEB2

More Info

CF Italia

Bolt on to CFEU2v1 to increase the mutation coverage for the Italian population.

Genetic Analyser

CFITAB1

More Info

CF Iberian

Bolt on to CFEU2v1 to increase the mutation coverage for the Iberian population.

Genetic Analyser

CFIBNB1

More Info

CF-UK

Bolt on to CFEU2v1 to increase the mutation coverage for the British population.

Genetic Analyser

CF1UKB1

More Info

 

Elucigene kits are developed and manufactured within quality systems accredited to ISO9001:2008 and ISO13485:2003 and are validated as in vitro diagnostic devices in compliance with the European Community Directive 98/79/EC and the Canadian Medical Device Regulations (CMDR). Elucigene is a trademark of Delta Diagnostics (UK) Ltd. ARMS is a trademark of AstraZeneca UK Ltd. GeneMarker is a trademark of SoftGenetics Corporation. VIC®, PET® and NED™ are trademarks of Life Technologies Corporation.

Licensee Kits: This product is sold pursuant to an agreement with Life Technologies Corporation. The purchase of this product conveys to the buyer the non-transferable right to use only the purchased amount of the product and its components only for human in vitro diagnostics, solely for the clinical indication described in the accompanying instructions for use. For information on obtaining rights to use this product or its components, please contact This email address is being protected from spambots. You need JavaScript enabled to view it..