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Department of Molecular Genetics

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

The Department of Molecular Genetics is routinely focused on determining the presence of BCR::ABL in blood and bone marrow samples from ÚHKT patients. At the same time, it performs regular molecular monitoring of measurable residual disease (MRD) in patients with chronic myeloid leukemia (CML) and Ph+ acute lymphoblastic leukemia (ALL), and detection of mutations in the kinase domain of BCR::ABL1, which cause resistance to treatment with tyrosine kinase inhibitors. Other examinations provided include analysis of a panel of fusion genes that occur in patients with ALL, and pharmacogenotyping of single nucleotide polymorphisms related to response to imatinib treatment. Apart from this specialized diagnostics, the department cooperates in the international field in connection with standardization of MRD monitoring and within clinical trials. 

The department directs its research activities towards improving molecular diagnostics of CML and ALL for clinical practice using new technologies (e.g. next-generation sequencing, droplet digital PCR). The aim is to detect and timely identify developing treatment resistance with clinical relevance and to evaluate effective personalized treatment in patients in advanced phases of disease where conventional treatment fails (research in vitro and in vivo). Within its projects, it also studies other molecular mechanisms of disease (e.g. development of mutations in tumor-specific genes, epigenetic regulation in healthy and leukemic hematopoiesis, the role of drug transporters in treatment response and its adverse effects).

The laboratory works closely with ÚHKT physicians who care for patients with CML and Ph+ ALL.

The Department of Molecular Genetics organizes annually for interested parties from the Czech Republic and Slovakia interlaboratory comparison tests for the field "Diagnostic determination of BCR::ABL1 fusion gene" and once every 2 years interlaboratory comparison tests for the field "Quantitative determination of M BCR::ABL1 transcript level" and "Detection of mutations in the kinase domain of BCR::ABL1".

The Department of Molecular Genetics is also a training facility for undergraduate and postgraduate students and provides specialized education for universities.

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

Trust and high data security is one of the fundamental priorities in the activities of the Complement of ÚHKT laboratories. Established procedures are carried out 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, 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 on the repeal of Directive 95/46/ES. More information is available on the website ÚHKT.