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Genomics Department

The workplace is integrated into the Complement of ÚHKT laboratories. It continuously defends an independent and impartial assessment of the professional competence of the Complement of laboratories according to the ČSN EN ISO 15189 standard, the application of which is verified by the Czech Institute for Accreditation. Examination methods within the scope of accreditation are defined by the appendix of the Accreditation Certificate in its current version, which is available on the websites of ÚHKT.

The Genomics Department 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 diagnostics 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. Within the diagnostics of hemoglobinopathies, mutations and long deletions in the HBA2, HBA1 and HBB genes are examined. In selected patients with family history, we examine hereditary predispositions to hemato-oncological diseases. 

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

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

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

Trust and high data security is one of the basic priorities within the activities of the Complement of ÚHKT laboratories. The established procedures are conducted in accordance with the Personal Data Processing Act 110/2019 Coll., and the Regulation of the European Parliament and Council of the EU 2016/679, dated April 27, 2016, on the protection of individuals with regard to the processing of personal data and on the free movement of such data and on the repeal of Directive 95/46/ES. More information is available on the websites of ÚHKT.