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Molecular Genetics Thalassemia lab of The Cyprus Institute of Neurology and Genetics transforms testing with NGS

In this case study, Dr. Papasavva describes her laboratory’s journey from traditional thalassemia testing to state-of-the-art NGS technology and what a difference this has made in their daily work.

  • Instead of running on average three tests per
    patient, they now only run one and get a
    comprehensive analysis
  • The workflow is fast and simple; with just one
    tube we can test most of the thalassemias
    almost 100%
  • They can save on average 4 weeks for a patient
    waiting for their diagnosis

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Whitepaper

Challenges in laboratory detection of the α3.7 and α4.2 
deletion in thalassemia

This whitepaper explores the diagnostic 
challenges posed by the α3.7 and α4.2 deletions in 
alpha thalassemia testing and the opportunities to 
overcome the limitations of traditional methods. 

In this whitepaper, you will learn: 
• The molecular basis and clinical implications of the 
α3.7 and α4.2 deletions. 
• Key challenges in the detection of these deletions 
using traditional diagnostic methods. 
• Advances in NGS technologies and their impact on 
thalassemia diagnostics.
• The need for integrated data analysis software to 
enable accessibility to thalassemia genetic testing.