Cystic Fibrosis

I seek to improve cystic fibrosis testing.

Cystic fibrosis (CF) affects about 70,000 children and adults worldwide1. Currently, there is no cure for CF. Our best defenses against this disease are prevention and early diagnosis.

Next-generation sequencing (NGS) provides visibility into the cystic fibrosis transmembrane conductance regulator (CFTR) gene for increased clarity in molecular CF testing. Ultimately, this information can be used to make informed family planning decisions and choose optimized treatments, leading to a better quality of life.

NGS Solutions for Cystic Fibrosis Testing

The MiSeqDx System is the first FDA-cleared in vitro diagnostic (IVD) NGS platform offering a complete solution for accurate, comprehensive CF testing. One platform, the MiSeqDx instrument, runs both the MiSeqDx Cystic Fibrosis 139-Variant Assay and the MiSeqDx Cystic Fibrosis Clinical Sequencing Assay, streamlining the laboratory workflow and increasing operational efficiency.

See more of the data that matters

  • The 139-variant assay detects 139 CFTR variants, providing the largest panel of clinically relevant and functionally verified variants as defined in the CFTR2 database
  • The clinical sequencing assay accurately sequences all protein coding regions and intron/exon boundaries of the CFTR gene, two large deletions (exon 2,3 and exon 22,23), two deep intronic mutations (1811+1.6Kb A>G and 3849+10Kb C>T), and indels in homopolymeric regions such as the 2184delA deletion 

Get a more complete answer the first time

  • Highly accurate and reproducible results with ≥ 99.7% overall agreement for all reported positions and variants for the carrier screening and diagnostic assays
  • Timely delivery of results with a sample first pass rate of ≥ 99.7%*
  • Built upon the well-respected and established Illumina sequencing by synthesis (SBS) technology†


  1. U.S. National Library of Medicine. PubMed Health (

* Number of samples passing QC metrics on the first attempt
† Wide adoption in the sequencing community as demonstrated by the number of publications in the PubMed database


MiSeqDx Cystic Fibrosis SystemVideo: MiSeqDx Cystic Fibrosis System

Seek to improve cystic fibrosis testing.
Watch the video »

Sean YoungVideo: Sean Young

Sean's Story
“Just recently they started testing newborns for CF, I wish we were given that opportunity.”
Watch the video »

Patty FureyVideo: Patty Furey

Patty's Story
“I truly believe that CF is going to stand for ‘cure found’.”
Watch the video »

For In Vitro Diagnostic Use.

Contact an Illumina representative for regional availability.