Thalassemia testing. Simplified

Devyser Thalassemia v2 expands on the robust CNV detection by introducing a direct detection for two common deletions: α3.7 and α4.2 deletions. It also includes key beta modifiers that may influence the levels of hemoglobin.  

By introducing a long-range PCR, the homologous HBA region is covered in one single amplification.  

It combines comprehensive variant coverage (including CNVs and complex deletions) with direct detection of α3.7/α4.2 and β-modifier detection, plus a streamlined workflow and a dedicated analysis pipeline. This helps replace fragmented testing approaches that require multiple standalone assays and manual interpretation.  

Devyser Thalassemia v2 covers SNVs, indels, CNVs, and complex deletions across the HBA1/2, HBB, HBD, and HBG1/2 gene clusters, and includes clinically relevant β-globin modifiers to support refined phenotype interpretation.  

Direct detection helps reduce uncertainty and repeat testing by offering a robust confirmation method within the same test. By capturing these key α-globin deletions directly, labs can improve result reliability and support more confident reporting.  

Results are supported by a dedicated analysis pipeline designed specifically for Devyser Thalassemia v2. It provides intuitive visualization of SNVs, CNVs, and modifier variants, and enables rapid reporting while minimizing manual data handling.  

The workflow is designed to reduce reliance on in-house bioinformatics by supporting streamlined review and reporting through the dedicated pipeline, helping labs avoid spreadsheet-heavy or highly manual analysis approaches.  

Yes. The assay is designed to support workflows from routine diagnostics to higher-throughput needs, with a consolidated approach that reduces extra testing steps and helps lower operational burden.  

 Yes. Devyser provides support for assay implementation, validation, and troubleshooting, as well as guidance around result review and reporting practices within your workflow.