ÚHKT - Ústav hematologie a krevní transfuze
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Genomics Department

The workplace is integrated into the Complement of laboratories IHBT. It continuously upholds an independent and impartial assessment of the professional competence of the Complement of laboratories in accordance with the standard ČSN EN ISO 15189, whose application is verified by the Czech Accreditation Institute. The examination methods within the scope of accreditation are defined by the appendix to the Accreditation Certificate in its current version, which is available on the website IHBT.

The Department of Genomics performs molecular diagnostics and monitoring of prognostic/predictive markers in patients with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), and also deals with the diagnosis of hemoglobinopathies. For routine diagnostic purposes, mutations in the NPM1 and CEBPA genes are determined in AML patients. To monitor minimal residual disease (MRD), monitoring of the expression level of the WT1 gene and the mutated NPM1 gene is used. Using next-generation sequencing (NGS), mutations in a panel of 59 genes associated with myeloid malignancies are identified in MDS and AML patients. As part of hemoglobinopathy diagnostics, mutations and long deletions in the HBA2, HBA1 and HBB genes are examined. In selected patients with family burden, we examine hereditary predispositions to hematooncological diseases. 

An important part of the Department of Genomics' activities is research aimed at studying the molecular pathogenesis of myeloid malignancies with the aim of clarifying the origin and development of these diseases, defining further molecular biomarkers for prognostic and predictive purposes, and verifying their applicability in clinical practice.

Last but not least, the Department of Genomics serves as a training facility for undergraduate and postgraduate students.

Employees are bound by confidentiality according to the Law on Health Services, 372/2011 Coll.

Trust and high data security is one of the basic priorities within the activities of the Complement of laboratories IHBT. The implemented procedures take place in accordance with the Law on Personal Data Protection 110/2019 Coll., and the Regulation of the European Parliament and of the Council of the EU 2016/679 of 27 April 2016 on the protection of natural persons with regard to the processing of personal data and on the free movement of such data and repealing Directive 95/46/EC. More information is available on the website IHBT.