Devyser releases a genetic testing kit for Thalassemias

Alpha and beta-thalassemia are severe forms of anemia. Alpha-thalassemia is most often caused by deletions in one or both HBA genes, while the major cause of beta-thalassemia is single nucleotide variants (SNVs) in the HBB gene.

There are many advantages to this test, which includes:

  • One simple assay for all thalassemia genetic testing needs
  • Single tube NGS analysis of mutations causing both alpha and beta-thalassemia
  • Detects both SNVs and deletions in the HBA1, HBA2 and HBB genes
  • Simple, fast and robust NGS workflow – NGS has never been easier
  • Optimized data analysis software

Devyser Thalassemia detects all mutations in HBA1, HBA2 and HBB including SNVs, Indels and CNVs. It is optimized to be used for both large scale mutation screening and advanced second level genetic testing. The fast, simple and robust NGS workflow replaces time consuming multi-step protocols and the need for maintaining several different assays in your lab.

Devyser’s proprietary PCR chemistry provides complete and uniform coverage of the targeted regions. It also enables a high level of overlapping amplicon multiplexing, which results in a unique NGS library preparation process with no sample splitting. This simplifies the workflow, reduces the risk of contamination and minimizes the potential for sample mix-up.

To enable sensitive and reliable detection of known deletions, direct detection using primers aligned to both ends of the breakpoint is implemented for 17 large deletions with high prevalence. Simultaneously, sequence-coverage based CNV analysis confirms the detected deletions and identifies other deletions in the targeted region.

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