Molecular Genetics Thalassaemia Department


The Molecular Genetics of Thalassaemia Department offers specialized diagnostic services for haemoglobinopathies and Duchenne Muscular Dystrophy, non-invasive prenatal diagnosis (NIPD) during pregnancy and preimplantation diagnostic testing. 

Specifically, the department provides: prenatal molecular diagnosis for β-thalassaemia, α-thalassaemia and other haemoglobinopathies, molecular diagnosis for carriers and patients. Pre-implantation genetic diagnosis (PGD) for β-thalassaemia (including identification of compatible donor siblings by HLA typing where needed), α-thalassaemia and other monogenic disorders. Carrier detection and prenatal diagnosis for Duchenne and Becker Muscular Dystrophy. Non-invasive prenatal diagnosis (NIPD) tests on foetal sex determination for gestations at risk for severe X-linked disorders and for foetal rhesus determination for pregnancies at risk for the haemolytic disease of the newborn. 



List of Services

Prenatal diagnosis for Thalassaemia ‐ 1st CVS /prenatal Prenatal diagnosis for Thalassaemia ‐ 2nd CVS /prenatal Diagnostic samples for Thalassaemia ...

Submitting Samples

For submission of samples to the Molecular Genetics Thalassaemia Department, the referring clinician should, please, use the appropriate referral ...


The Molecular Genetics Thalassaemia Department has been granted the accreditation CYS EN ISO 15189:2012