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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.
The test is CE-IVD certified.
Devyser Thalassemia v2 (RUO) is a NGS assay which delivers robust detection of all relevant alpha and beta thalassemia variants in the HBA1/2, HBB, HBD, KLF1 and HBG1/2 genes, along with CNVs, complex variants, and additional beta modifiers. This solution can also detect challenging alpha thalassemia deletions such as α3.7 and α4.2 through integrated long-range PCR.
Library preparation is based on amplicon sequencing. Multiplex PCRs are followed by library pooling and purification without the need for individual library quantification and normalization, which allows minimizing the risk of sample mix-up, cross-contamination and manual work time (<45 min)
The product is compatible with Illumina instruments.
For evaluation, it is possible to use AmpliconSuite (SmartSeq).
For more information, please contact us by e-mail: diagnostika@pentagen.cz