Devyser Thalassemia NGS

A single, one-tube NGS assay that detects all sequence variants in HBA1, HBA2 and HBB in a single run, eliminating the need for additional workflows. The assay detects SNVs, Indels and applies two simultaneous methods to detect CNVs. The extremely simple procedure suits any lab, whether you are running advanced genetic testing or large scale mutation screening.

Complete single-tube analysis for thalassemias
Fast and simple NGS workflow
User-friendly data analysis software

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.

Features and benefits

- Single-tube NGS assay for simultaneous comprehensive analysis of the HBA and the HBB gene clusters‍

- Full gene sequencing of HBA1, HBA2 and HBB genes enables detection of all SNVs‍

- Robust CNV detection with two combined strategies for CNV detection: Direct detection of 18 CNVs Coverage based detection of CNVs in both the HBA and the HBB gene clusters‍

Built in rapid sample mix-up control through sex chromosome markers

More details

Detect all sequence variants

If a genetic testing workflow is terminated when a first sequence variant is found, or a method is used where only sequence variant-specific detection is possible, there is a risk that additional sequence variants remain undetected. A recent study shows that the Devyser Thalassemia NGS assay detects sequence variants that were not discovered with traditional Thalassemia testing. Devyser’s kit was used to analyse 125 samples previously characterised to carry pathogenic sequence variants in the globin genes using traditional genetic testing methods and workflows.

- All previously detected pathogenic SNVs, Indels and CNVs in the globin genes were confirmed using Devyser Thalassemia.

- In 15% of samples, additional pathogenic sequence variants were found. The majority of these were found in a different globin gene. These sequence variants had previously not been identified since the workflow had been terminated as soon as a pathogenic sequence variant was found in the first gene cluster investigated.

Genes and regions covered

Large structural deletions are analysed over the entire alpha and beta globin gene clusters. The HBA1, HBA2 and HBB genes have an extra high coverage density to allow precise deletion mapping. Genes colored in blue are fully sequenced to allow comprehensive detection of Indels and point sequence variants in the globin genes. Vertical arrows illustrate positions where the presence of CNVs (i.e. large structural deletions) are investigated.

Data analysis

A tailored bioinformatic software pipeline enables data analysis and assists in the clinical interpretation of testing results obtained using Devyser Thalassemia. SNVs, Indels and CNVs are rapidly analysed and intuitively displayed.