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.
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
Illumina sequencing by synthesis (SBS) chemistry is a widely adopted NGS technology. Clinical laboratories can leverage this proven method to achieve reliable results in cystic fibrosis testing.
Laboratories can benefit from:
Read this Customer Spotlight on how Drs. Mei Baker and Philip Farrell, at the University of Wisconsin School of Medicine and Public Health, have been instrumental in developing NGS-based algorithms to optimize CF screening and address disparities in current CF testing protocols. In this interview, they talk about the importance of comprehensive newborn screening and the ways in which NGS-based testing is transforming patient care.
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