ResourceLife Sciences
Meeting modern demands: How NGS can help overcome thalassemia testing challenges
16 May 2025Thalassemia is a common inherited blood disorder affecting nearly 300,000 people annually worldwide. While prevention programs have reduced the incidence in endemic regions, migration has led to new diagnostic challenges in non-endemic areas. The discovery of more variants makes it challenging for clinicians and laboratories to diagnose and manage appropriately. This whitepaper details how next-generation sequencing can help overcome these challenges and provide fast and accurate thalassemia diagnosis.
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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.Genetic TestingThalassaemia