Department of Genomics

The department is integrated in the Complement of the laboratories of the Institute of Chemical Technology. It continuously advocates 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. The test methods within the scope of accreditation are defined by the Annex to the Certificate of Accreditation in the current version, which is available on the ÚHKT website.

 

The Department of Genomics performs molecular diagnostics and monitoring of prognostic/predictive markers in patients with myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML), it also deals with the diagnosis of haemoglobinopathies. For routine diagnostic purposes, mutations in the NPM1 and CEBPA genes are determined in AML patients. For monitoring minimal residual disease (MRD), monitoring of WT1 and mutated NPM1 gene expression levels is used. Mutations in a panel of 59 genes associated with myeloid malignancies are identified in MDS and AML patients using next-generation sequencing (NGS). Mutations and long deletions in the HBA2, HBA1, and HBB genes are investigated in the diagnosis of hemoglobinopathies. In selected patients with a familial burden, hereditary predisposition to hematooncological diseases is investigated. 

 

An important part of the activities of the Genomics Department is research aimed at studying the molecular pathogenesis of myeloid malignancies in order to elucidate the origin and development of these diseases, to define additional molecular biomarkers for prognostic and predictive purposes and to verify their applicability in clinical practice.

 

Finally, the Genomics Department serves as a training facility for undergraduate and graduate students.

 

The staff is bound by confidentiality according to the Health Services Act, 372/2011 Coll.

 

Confidence and high data security is one of the basic priorities within the activities of the Complement of Laboratories of the Institute of Human Genetics. The established procedures are carried out in accordance with the Act on the Processing of Personal Data 110/2019 Coll. and Regulation (EU) 2016/679 of the European Parliament and of the Council 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 ÚHKT website (in Czech only).

 

 

Investigated projects

Collaboration

Selected publications