ResourceClinical Diagnostics
NGS: changing the game in CFTR analysis
20 Aug 2025Cystic fibrosis is a complex multisystem disorder primarily affecting the lungs, pancreas, intestines, and sweat glands, and is commonly diagnosed through CFTR mutation analysis. In clinical laboratories, CFTR testing is among the most frequently requested genetic analyses, often relying on costly 'level 1' and 'level 2' testing approaches.
Explore the implementation of next-generation sequencing (NGS) for comprehensive CFTR analysis. Learn how NGS enables rapid, cost-effective sequencing at the whole gene level, offering a powerful alternative to traditional Sanger-based assays.
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Clinical GeneticsMolecular Genetics covers the analysis of hereditary genetic disease and chromosomal abnormalities. Genetics can be analysed using DNA, RNA, and protein microarrays, PCR, RT PCR and DNA sequencing. Genetic equipment includes genetic workstations, thermal cyclers, cooling blocks and electrophoresis products. Diagnostic kits are used for DNA / RNA extraction and purification.Next Generation SequencingNext-generation sequencing (NGS), also known as whole-genome sequencing, high-throughput sequencing and massive parallel sequencing, produces and analyses thousands to millions of nucleotide sequences at once. Sequencing systems operate via varying technologies depending on the manufacturer, including sequencing by synthesis, ligation, pyrosequencing, ion semiconductor and single-molecule real-time sequencing. For NGS, library preparation is paramount to successful sequencing. In this section, explore a range of library preparation kits, from targeted, amplicon-based or hybridization-based kits including epigenomic, transcriptomic and genomic workflows to fragmentation kits. Find the best next-generation sequencing products in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.Cystic Fibrosis