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Cystic Fibrosis

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Carrier testing and newborn screening

Cystic Fibrosis (CF) is one of the most common hereditary life-shortening conditions affecting 1 in 2,500 live births in Caucasians.
As an autosomal recessive condition, individuals who inherit two mutated alleles will develop the classic Cystic Fibrosis phenotype, whereas individuals with one mutated allele will have Cystic Fibrosis type diseases.
Carrier testing and newborn screening for Cystic Fibrosis helps identify disease-causing variants, enabling early diagnosis, informed reproductive decision-making, and timely clinical management.

Designed for diversity

Over 2,000 mutations have been identified within the CFTR gene, therefore a targeted testing approach confined to the most common mutations, is most the cost-effective method, followed by confirmatory testing.
To address variation in geographical populations and ethnic groups, Yourgene provides a range of Amplification-Refractory Mutation System (ARMS) PCR assays designed for targeted regional populations. The assays can be used for carrier screening or newborn screening (NBS) in clinical pathways.

Cystic Fibrosis Screening Assays

Yourgene® Cystic Fibrosis Base (IVDR) is a pan-European CF testing kit designed specifically to address the most common 50 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 NBS and carrier testing.

  • Carrier Testing: Blood or buccal/saliva samples for individuals with a family history of cystic fibrosis, prior to starting a family
  • Newborn Screening: Newborn blood spot test for babies from 5 days old

The Yourgene® Cystic Fibrosis Base assay has received IVDR certification!

A product with IVDR certification enables clinician and patient confidence in a higher quality test – where accuracy matters

View our IVDR certification here.

Cystic Fibrosis Base IVDR

Cystic Fibrosis Range

Yourgene® Cystic Fibrosis Base (IVDR)

Detects the 50 most common mutations in the European population

Yourgene® Cystic Fibrosis Base Lite

Detects the 4 most common mutations in the European population

Yourgene® Cystic Fibrosis Base Germany

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

Yourgene® Cystic Fibrosis Base France

Detects the 29 most common mutations in the French population

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

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

Yourgene® Cystic Fibrosis Plus UK

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

The Yourgene® Cystic Fibrosis Base assay is CE marked in accordance with the IVDR.

The other assays in the Yourgene® Cystic Fibrosis Range are CE marked in accordance with IVDD. Kits are also available as Research Use Only (RUO) products.

See our Product Menu for further information. Add link to product portfolio.

Male Infertility Complete Investigation

Mutations in the CFTR gene (heterozygous/homozygous) is associated with a significantly higher prevalence of infertility in males*.

Yourgene Health also have a PCR assay for Male Factor Infertility which can be bundled with our Cystic Fibrosis assays for a complete investigation into male infertility.

*(98% of men with Cystic Fibrosis have fertility issues).