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.
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.
The MiSeqDx 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 MiSeqDx 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
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: