ÚHKT - Ústav hematologie a krevní transfuze
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Department of Molecular Genetics

The workplace is integrated into the Complement of laboratories IHBT. It continuously defends an independent and impartial assessment of the professional competence of the Complement of laboratories according to the standard ČSN EN ISO 15189, the application of which 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 IHBT.

The Department of Molecular Genetics is routinely focused on determining the presence of BCR::ABL in blood and bone marrow samples from patients IHBT. 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 provided examinations include analysis of a panel of fusion genes that occur in patients with ALL, and pharmacogenotyping of single nucleotide polymorphisms related to the response to imatinib treatment. Beyond this specialized diagnostics, the department cooperates in the international field in connection with standardizing MRD monitoring and as part of 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 stages of the disease where conventional treatment fails (research in vitro and in vivo). Within its projects, the department also studies other molecular mechanisms of the 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 closely cooperates with physicians IHBT, 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 an interlaboratory comparison of tests for the field "Diagnostic determination of BCR::ABL1 fusion gene" and once every 2 years an interlaboratory comparison of tests for the fields "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 workplace for undergraduate and postgraduate students and provides specialist education for universities.

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

Trust and high data security is one of the fundamental priorities within the activities of the Complement of laboratories IHBT. The established procedures are carried out in accordance with the Act on Personal Data Processing 110/2019 Coll., and the Regulation of the European Parliament and of the Council 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.