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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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Ebook

Modernizing genetic testing for cystic fibrosis

This ebook explores the critical need to modernize cystic fibrosis (CF) diagnostics by transitioning from traditional fixed-panel genetic testing to comprehensive NGS-based CFTR analysis. It highlights:

  • The genetic basis of CF and why full CFTR gene analysis is critical for accurate diagnosis and carrier screening.

  • Disparities in traditional testing methods and how NGS helps close diagnostic gaps in underrepresented populations.

  • NGS as a scalable, cost-effective approach that supports evolving clinical guidelines and real-world lab demands.