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Cystic Fibrosis (CF) has become the most common life-shortening hereditary genetic condition affecting 1 in 2500 live births in Caucasians. It is an autosomal recessive condition. Where the person has inherited two mutated alleles, they will display classic Cystic Fibrosis. Heterozygous carriers can display Cystic Fibrosis type diseases.

Yourgene Cystic Fibrosis Base Kit

Cystic Fibrosis Transmembrane Receptor 

Cystic Fibrosis (CF) is caused by a dysfunctional CF Transmembrane Receptor (CFTR). This receptor is encoded by the CFTR gene located on chromosome 7q31. The CFTR gene is composed of 27 exons, encoding 1480 amino acids. The CFTR receptor is responsible for Chloride ion flux out of cells and also regulates a number of other salt balancing receptors. Over 2000 mutations have been identified within the CFTR gene. The type of mutation is important for the treatment regime.

Routine testing for all possible mutations is neither feasible nor cost effective and is therefore confined to testing for the most common mutations. For example, the d508F mutation accounts for over 50% of CF cases worldwide. A targeted testing approach is most cost-effective, followed by secondary sequencing for confirmation.

CE-IVD products

Within defined geographical populations and ethnic groups, there are variations in the predominant mutations. To address this variation, Yourgene provides a range of CE-IVD products designed specifically for these populations and groups. The kits use Quantitative Fluorescence-Polymerase Chain Reaction (QF-PCR) technology and genetic analysers to detect point mutations, insertions or deletions in DNA.

Yourgene® Cystic Fibrosis Base is a pan-European CF testing kit designed specifically to address the most common mutations found across populations of European origin. Alongside this assay, Yourgene Health offer a number of population-specific bolt-on panels, as well as bespoke offerings for national programs. The assay is designed with all clinically relevant diagnostic scenarios in mind, including newborn screening and male factor infertility testing.

The Yourgene® Cystic Fibrosis Base assay identifies 50 mutations in total, and also analyses the intron 9 polyT tract with accurate measurement of the adjacent TG repeat. The polyT tract at the junction of intron 9 and exon 10 influences transcription. Specifically, the number of thymidine residues (5T, 7T or 9T) affects the splicing efficiency of exon 10. If the 5T allele is present, a proportion of exon 10 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 10. 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 10. The CF range is unique amongst commercially available assays in its ability to accurately identify the number of TG repeats in addition to polyT status.

Tests

Yourgene® Cystic Fibrosis Base Lite

Yourgene® Cystic Fibrosis Base Lite

Detects the 4 most common mutations in the European population

Yourgene® Cystic Fibrosis Base

Yourgene® Cystic Fibrosis Base

Detects the 50 most common mutations in the European population

Yourgene® Cystic Fibrosis Base France

Yourgene® Cystic Fibrosis Base France

Detects the 29 most common mutations in the French population

Yourgene® Cystic Fibrosis Base Germany

Yourgene® Cystic Fibrosis Base Germany

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

Yourgene® Cystic Fibrosis Plus Italian

Yourgene® Cystic Fibrosis Plus Italian

Bolt on to Yourgene® Cystic Fibrosis Base to increase the mutation coverage for the Italian population

Yourgene® Cystic Fibrosis Plus Iberian

Yourgene® Cystic Fibrosis Plus Iberian

Bolt on to Yourgene® Cystic Fibrosis Base to increase the mutation coverage for the Iberian population

Yourgene® Cystic Fibrosis Plus UK

Yourgene® Cystic Fibrosis Plus UK

Bolt on to Yourgene® Cystic Fibrosis Base to increase the mutation coverage for the British population

Related products – Bundle with Yourgene’s Male Factor Infertility kit for complete male factor infertility investigation

Flexibility and simplicity from sample to report

Yourgene Health’s Cystic Fibrosis product range is compatible with most commonly employed DNA extraction protocols, thermal cyclers and capillary electrophoresis instruments. This flexibility in approach is complemented by simple and easy to use analysis software for reporting. Results can be analysed through either Life Technologies GeneMapper™ or SoftGenetics GeneMarker® software.

Fits comfortably into existing patient care pathways, with low DNA input volume

Target turn around time

Yourgene Health | the IONA® test | 99% detection rate
  • Rapid workflow - DNA sample to result in <5 hours.

Yourgene Health | the IONA® test | 99% detection rate
  • ~30 mins total hands on time

Test Features

Yourgene Health | the IONA® test | 99% detection rate

One PCR

  • Two tube analysis
  • Tube A: mutation detection and polyT status
  • Tube B: wildtype detection
  • Simple PCR set-up
  • Reduced hands on time
Yourgene Health | the IONA® test | 99% detection rate

One Analysis

  • No post-PCR manipulation
  • Compatible with ABI 3*** and SeqStudio Genetic Analysers
  • Highly multiplexed 5 dye chemistry
  • Rapid Analysis
Yourgene Health | the IONA® test | 99% detection rate

One Report

  • GeneMarker® and GeneMapper™ software applications
  • Easy data review and analysis
  • Informative single page reporting
  • No data transfer required

Newborn Screening Clinical Pathway

Yourgene Health | Our Products | Assays and Applications | Cystic Fibrosis | Workflow

Performance you can rely on
100% Accuracy, Repeatability & Reproducibility


Positive Percent Agreement (PPA)
Negative Percent Agreement (NPA)
Overall Agreement (OA)
Accuracy
100%
100%
100%
Repeatability
100%
100%
100%
Reproducibility
100%
100%
100%
Yourgene Health | the IONA® test | 99% detection rate

Accuracy, Repeatability & Reproducibility

Accuracy was compared to Sanger sequencing. Accuracy of the Yourgene® Cystic Fibrosis Base (previously known as CF-EU2v1) assay was assessed by evaluating 159 samples representing a wide variety of CFTR gene variants from 4 separate sources.

Related Publications

Bienvenu T, Lopez M, Girodon E. Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges. Genes. 2020 June 4.

Sadik I, Pérez de Algaba I, Jiménez R, Benito C, Blasco-Alonso J, Caro P, ... & Yahyaoui R. Int J Neonatal Screen. Initial Evaluation of Prospective and Parallel Assessments of Cystic Fibrosis Newborn Screening Protocols in Eastern Andalusia: IRT/IRT versus IRT/PAP/IRT. 2019 September 3.

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. Balkan Journal of Medical Genetics. 2019 August 28.

Petrova G, Yaneva N, Hrbková J, Libik M, Savov A, & Macek Jr M. Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients. Mol Genet Genomic Med. 2019 June 27.

Rueegg C.S, Kuehni C.E, Gallati S, Jurca M, Jung A, Casaulta C, … & Swiss Cystic Fibrosis Screening Group. Comparison of two sweat test systems for the diagnosis of cystic fibrosis in newborns. Pediatr. Pulmonol. 2019 January 4.

Marcão A, Barreto C, Pereira L, Vaz L. G, Cavaco J, Casimiro A, ... & Vilarinho L. Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies. Int J Neonatal Screen. 2018 June 29.

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