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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

Meeting modern demands: 
How NGS can help overcome
thalassemia testing challenges

This whitepaper  details how next-generation sequencing 
(NGS) can be used to help overcome these  challenges and provide fast and accurate thalassemia diagnosis. 

Thalassemia is an inherited blood disorder with a worldwide prevalence of nearly 300,000 people diagnosed per year. As the most common hemoglobinopathy, it is a major cause of disability and premature mortality around the world. However, if the disease is diagnosed correctly, treatment can 
begin promptly, which can help prevent permanent damage caused by excessive iron build-up and provide patients with a better quality of life. The overall incidence of thalassemia has decreased due to successful prevention programs in areas of high prevalence. However, migration and the resulting shifting demographics have seen the disease 
occurring in regions not previously endemic.

The discovery of more variants makes it challenging for clinicians and laboratories to diagnose and manage appropriately. These regions would benefit from a test that 
provided comprehensive genetic profiling with an efficient workflow.