Cystic Fibrosis*

Understanding Genetic Causes of Cystic Fibrosis

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

Illumina products for cystic fibrosis testing are FDA-cleared and validated to meet stringent performance criteria. Both assays are intended to be used on the MiSeqDx instrument, the first FDA-regulated, CE-IVD-marked NGS platform for in vitro diagnostic (IVD) testing.

TruSight Cystic Fibrosis is an FDA-cleared, CE-IVD-marked 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. It provides the largest panel of clinically relevant, functionally verified variants in a diverse population.2-3

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.3

NGS Solutions for Cystic Fibrosis Testing

Illumina sequencing by synthesis (SBS) chemistry is the most widely adopted NGS technology, responsible for generating more than 90% of the world’s sequencing data.4 Clinical laboratories can leverage this proven method to achieve reliable results in cystic fibrosis testing.

Laboratories can benefit from:

  • Confident results: The first FDA-regulated, CE-IVD-marked, NGS instrument for in vitro diagnostic use and FDA-cleared 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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MiSeqDx Cystic Fibrosis System

Seek to improve cystic fibrosis testing.

Sean's Story

"Just recently they started testing newborns for CF. I wish we were given that opportunity."

Patty's Story

“I truly believe that CF is going to stand for ‘cure found’.”

  1. Cystic Fibrosis Foundation (
  2. Sosnay PR, Siklosi KR, Van Goor F, et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nature Genetics. 2013;45(10):1160-1167
  3. Hughes EE, Stevens CF, Saavedra-Matiz CA, et al. Clinical sensitivity of cystic fibrosis mutation panels in a diverse population. Human Mutation. 2016;37(2):201-208
  4. Data calculations on file. Illumina, Inc., 2015