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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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Special report

Enabling the Early Detection and targeted intervention of patients at risk of hereditary cancer syndromes

This report  details how integrating genetic testing into 
cancer risk assessment and management has 
ushered in a new era of precision medicine.

Cancer risk assessment has undergone a transformative evolution with the advent of advanced genetic testing, shedding light on hereditary syndromes such as Lynch syndrome and hereditary breast and ovarian cancer (HBOC). 
Among the key genetic anomalies linked to these conditions are mutations in mismatch repair (MMR) genes, which are causal in Lynch syndrome, and BRCA1/2 and PALB2 in HBOC.

By understanding the specific genetic mutations that underlie conditions like Lynch syndrome and HBOC and utilizing advanced NGS assays, we can develop targeted strategies for prevention, early detection, and personalized treatment. This not only improves patient outcomes but also represents a significant leap forward in our fight against hereditary cancers.