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Cystic fibrosis testing

NGS-based diagnostic testing solutions for clinically relevant CFTR gene variants

Close up of female scientist holding a single pipette in one hand and a tube in the other.

Understanding genetic causes of cystic fibrosis

Illumina offers accurate and comprehensive solutions for cystic fibrosis testing. Cystic fibrosis (CF) affects more than 70,000 children and adults worldwide.1 With no known cure, prevention and early diagnosis are crucial.

Our next-generation sequencing (NGS) assays provide visibility into the cystic fibrosis transmembrane conductance regulator (CFTR) gene for molecular diagnostic testing of cystic fibrosis. Ultimately, this information can be used to make informed family planning decisions and choose optimized treatments, leading to a better quality of life.

Identify clinically relevant CFTR gene variants

TruSight Cystic Fibrosis is an NGS test that provides two CF testing assays in one product. It covers both the TruSight Cystic Fibrosis 139-Variant Assay and the TruSight Cystic Fibrosis Clinical Sequencing Assay.

The TruSight Cystic Fibrosis 139-Variant Assay detects 139 CFTR variants as defined in the CFTR2 database.2 It provides the largest panel of clinically relevant, functionally verified variants identified in a diverse population.3,4

The TruSight Cystic Fibrosis Clinical Sequencing Assay accurately sequences protein coding regions and intron/exon boundaries of the CFTR gene, two large deletions, two deep intronic mutations, and indels in homopolymeric regions such as the 2184delA deletion. Sequencing the CFTR gene removes the bias inherent in existing genotyping panels.4

Illumina products for cystic fibrosis testing are validated to meet stringent performance criteria. These assays are intended to be used on the MiSeqDx Instrument, one of several NGS instruments that we offer for in vitro diagnostic (IVD) testing.

Learn more about TruSight Cystic Fibrosis
View the MiSeqDx Instrument

NGS solutions for cystic fibrosis testing

Illumina sequencing by synthesis (SBS) chemistry forms the foundation of NGS technology. Clinical laboratories can leverage this proven technology to achieve reliable results in cystic fibrosis testing.

Laboratories can benefit from:

  • Confident results: Leverage NGS instruments for IVD use and assays with validated performance characteristics
  • Simple workflow: Automated sequencing includes integrated data analysis
  • Cost-effective approach: High-throughput capabilities enable screening of many variants per sample and minimize additional testing
  • User-friendly, intuitive software: Fully integrated software accessed through a touch screen interface provides step-by-step guidance, run monitoring, data analysis, and report monitoring
  • Expandable technology: NGS can be applied to numerous assays, expanding the lab capabilities
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The impact of early cystic fibrosis diagnosis

View Patty’s story and see how important early diagnosis and treatment are for those with cystic fibrosis.

Speak to a specialist

Interested in learning more about cystic fibrosis testing?

References

  1. Cystic Fibrosis Foundation. About cystic fibrosis. cff.org/What-is-CF/About-Cystic-Fibrosis/. Accessed August 18, 2025.
  2. Welcome to CFTR2 | CFTR2. cftr2.org. Accessed August 28, 2025.
  3. Sosnay PR, Siklosi KR, Van Goor F, et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013;45(10):1160-1167. doi:10.1038/ng.2745
  4. Hughes EE, Stevens CF, Saavedra-Matiz CA, et al. Clinical sensitivity of cystic fibrosis mutation panels in a diverse population. Hum Mutat. 2016;37(2):201-208. doi:10.1002/humu.22927