Devyser Thalassemia NGS

NGS kit for the detection of variants in the genes HBA1, HBA2, HBB and 17 other CNVs associated with thalassemia.

More detailed product information

Devyser Thalassemia NGS is a genetic test enabling the detection of SNVs, InDels and CNVs in the HBA1, HBA2 and HBB genes. It also includes the detection of 17 CNVs in other genes that are associated with alpha-thalassemia and beta-thalassemia.

Library preparation is based on amplicon sequencing. Two multiplex PCRs in one reaction mixture are followed by library pooling and purification without the need for individual library quantification and normalization, which together with the "single-tube" approach allows minimizing the risk of sample mix-up, cross-contamination and manual work time (<45 min)

The product is compatible with Illumina instruments and is CE-IVD certified.

For evaluation, it is possible to use AmpliconSuite (SmartSeq), SOPHiA DDM (SOPHIA Genetics) or JSI (SeqPilot).

For more information, please contact us by e-mail: diagnostika@pentagen.cz