Simple procedure to detect all mutations in HBA1, HBA2 & HBB
With the Devyser Thalassemia kit you can detect all mutations in HBA1, HBA2 and HBB using a single, one-tube NGS assay.
The assay detects single nucleotide polymorphisms (SNVs) Indels and CNVs. The extremely simple procedure makes it an excellent choice for any lab, whether you are running advanced second level genetic testing or large scale mutation screening.
The fast, simple and robust NGS workflow replaces complex multi-step protocols and eliminates the need for maintaining multiple Thalassemia assays in your lab.
Comprehensive CNV detection
Devyser’s proprietary PCR chemistry provides complete and uniform coverage of the relevant genetic regions by enabling a high level of overlapping amplicon multiplexing.
This simple workflow significantly reduces the risk for contamination and sample mix-up. Reliable detection of large structural deletion is further improved through the use of PCR primers aligned to both ends of 18 large deletions with high prevalence. Simultaneously, coverage based CNV analysis is used to confirm detected deletions and to identify additional large structural deletions in the targeted regions.