With TruSight Cystic Fibrosis, you can choose between running the TruSight Cystic Fibrosis 139-Variant Assay or the TruSight Cystic Fibrosis Clinical Sequencing Assay, all from one library preparation.
TruSight Cystic Fibrosis library prep provides a fully integrated molecular CF testing solution on the MiSeqDx instrument. Simply prepare up to 96 libraries from 250 ng gDNA and load onto the MiSeqDx instrument for sequencing. On-board Local Run Manager software provides test analysis and report generation.
TruSight Cystic Fibrosis 139-Variant Assay Highlights
Improved Detection Rates of Cystic Fibrosis-Causing Variants
Detection of couples at risk increased from 72% to ~91%1
Reduced Additional Testing
Highly accurate and reproducible sequencing technology delivers dependable results
The TruSight Cystic Fibrosis 139-Variant Assay is an FDA-regulated, CE-IVD-marked NGS test designed to detect 139 CFTR variants defined in the CFTR2 database as of August 2013. Other methods test only for those variants most commonly found in European populations, potentially missing CF-causing variants across broader ancestral groups. The assay offers the largest CF variant panel to overcome this bias and provide comprehensive detection across diverse demographics.
TruSight Cystic Fibrosis Clinical Sequencing Assay Highlights
Complete View of the CFTR Gene
Capture all variants in the protein coding regions and intron/exon boundaries of the CFTR gene
Accurate Results
Deep coverage (> 3,000×) allows detection accuracy with a Positive Agreement (PA) of 99.66%*