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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

Clinical significance of fetal-hemoglobin modifiers in β-thalassemia and sickle cell disease

This whitepaper  provides an evidence-based overview of HbF genetic modifiers, their biological mechanisms, their clinical relevance, and how they should currently be interpreted in practice.