Devyser Thalassemia v2 is a fast and robust NGS solution designed for the detection of genetic variants in alpha and beta thalassemia. It offers comprehensive coverage of the globin genes HBA1, HBA2, HBB, HBD, HBG1, and HBG2, and includes the detection of single nucleotide variants (SNVs), insertions/deletions (Indels), and copy number variations (CNVs). Additionally, it detects beta-hemoglobin modifiers such as BCL11A and KLF1.
Key Features
Comprehensive variant detection: Identifies relevant genetic variants of alpha and beta thalassemia, as well as their modifiers.
Advanced CNV: Detects complex copy number variations (CNVs) in the alpha and beta globin gene regions, including the α3.7 and α4.2 deletions.
Long-range PCR (LR-PCR): Enables accurate detection of complex deletions in alpha thalassemia.
Low hands-on time: Streamlined workflow for fast results with same-day library preparation.
Dedicated software: Provides automated, user-friendly analysis, with options for batch export and efficient variant analysis without the need for bioinformatics expertise.
Genes Covered
HBA1, HBA2: Alpha-globin genes.
HBB: Beta-globin.
HBD: Delta-globin.
HBG1, HBG2: Gamma-globin.
Beta thalassemia modifiers:
KLF1 (whole exons).
BCL11A and HBS1L-MYB (point mutations).
Applications and Advantages
Applications
Research: Ideal for research laboratories studying the genetics of thalassemia and its modifiers.
Complex variant detection: Including alpha globin deletions and mutations affecting fetal hemoglobin (HbF) production.
System Advantages
High CNV accuracy: Utilizes long-range PCR techniques and coverage analysis to ensure accuracy in CNV detection.
Streamlined workflow: Sample library preparation with minimal hands-on time, suitable for high-throughput analysis.
Intuitive software: Facilitates the interpretation of genetic data, reducing the need for intensive bioinformatics intervention.
Technical Specifications
Sample requirements
Sample type: Human genomic DNA.
Requirements: Contaminant-free DNA, adequately concentrated for effective amplification.
Limitations
For research use only (RUO).
Results only applicable to the specific processed samples.
CNV detection can be affected by parameters such as DNA quality and concentration.
