Blood Disorder Genetics and Thalassemia Department
Hematogenetic Diagnostic Research and Services
(Hemoglobinopathy Investigators Thessalia Papasavva, Stephania Byrou; Hematology Investigator Panayiota L Papasavva)
Molecular research based on massively parallel sequencing and additional characterization of rare disorders, including:
- Hemoglobinopathies and other hematological disorders
- Predisposition to hematological malignancies
- Hepatological disorders
- Osteological disorders
- Iron metabolism and heme synthesis disorders
- Oxidative stress disorder
Specialized diagnostics for monogenic disorders, with emphasis on blood disorder genetics, including:
- Bespoke PGT based on long-read massively parallel sequencing (Oxford Nanopore Technology)
- Advanced NIPT assays for sex determination and monogenic disorders
Integration of molecular research with hematological clinical analyses, management and treatment (see here).
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