HLA Department
The workplace is included in the Complement of Laboratories ÚHKT. 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, whose application is verified by the Czech Institute for Accreditation. Examination methods within the scope of accreditation are defined by the annex to the Accreditation Certificate in its current version. This is available on the website of ÚHKT.
The HLA Department performs specialized genetic examinations of patients and donors of hematopoietic stem cells and further examines samples of patients with suspected congenital HLA predisposition to diseases such as celiac disease. All examinations are performed using molecular genetics methods.
When examining patients and searching for suitable hematopoietic stem cell donors, the main human immune system is tested – HLA (Human Leukocyte Antigens) at high resolution level using massively parallel sequencing. Furthermore, KIR genes (killer cell immunoglobulin-like receptors) are also tested for these purposes.
Within the scope of testing HLA association with diseases, particularly HLA genes associated with celiac disease risk, the department operates as a reference laboratory and ensures and coordinates the exchange of information with other DNA laboratories in the Czech Republic. It also provides consulting services and organizes interlaboratory comparison of tests.
Since 2007, the department has been accredited by the international professional organization European Federation for Immunogenetics. Within this organization, we regularly and successfully participate in international quality control checks for all examinations performed. The HLA Department is part of the NRL for DNA diagnostics.
Employees are bound by confidentiality in accordance with the Health Services Act, 372/2011 Coll.
Trust and high data security is one of the basic priorities in the activities of the Complement of Laboratories ÚHKT. The established procedures are carried out in accordance with the Personal Data Processing Act 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.
The HLA Department has been performing HLA system genotyping since 1993 as the first in the Czech Republic, for the needs of ÚHKT patients, the Clinic of Pediatric Hematology and Oncology of the Motol University Hospital and other clinical clients.
The HLA system (Human Leukocyte System) is the main histocompatibility system in humans. Genetically, it maps to the short arm of chromosome 6 (position 6p21.31 - 6p21.33). The products of its extremely polymorphic genes are antigenic structures (transmembrane glycoproteins) that recognize foreign structures to the organism and thereby initiate a cascade of immune responses.
Determining the precise HLA genotype in a patient and his donor is one of the basic conditions for the success of allogeneic hematopoietic stem cell transplantation. Mismatch in the HLA region between the donor and the transplant recipient can cause graft rejection or cause graft-versus-host disease GvHD (Graft Versus Host Disease), which is a serious or even fatal complication.
Currently, we routinely perform genotyping of the most important transplantation loci of HLA Class I and II: HLA-A, HLA-B, HLA-C, DRB1, DQB1, DQA1 and DPB1 in patients indicated for allogeneic hematopoietic stem cell transplantation and as a confirmatory examination for unrelated donors selected for them from Czech and foreign registries.
There is also a known association of certain diseases (e.g. rheumatoid arthritis, celiac disease, narcolepsy, insulin dependent diabetes mellitus) with specific alleles of the HLA system, which is manifested by an increase in the relative risk of disease when the given allele is present. However, none of these associations are absolute.
The laboratory determines HLA characteristics associated with diseases:
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HLA-B*27 positivity for association with rheumatoid diseases
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DQB1*06:02 positivity for determining association with narcolepsy
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DQB1 and DQA1 alleles associated with celiac disease according to recommendations of European Society for Pediatric Gastroenterology, Hepatology, and Nutrition Guidelines for the Diagnosis of Coeliac Disease
For the mentioned HLA characteristics, the laboratory organizes annual programs for interested parties IQC.
By agreement, we also perform genotyping of selected loci of the HLA system as supplementary information for the diagnosis of some HLA-associated diseases.
The study of the HLA system is also an important tool of pharmacogenetics, where an HLA characteristic can predict the responsiveness/non-responsiveness or sensitivity of a patient to the administration of a therapeutic preparation (e.g. administration of Abacavir in HIV-positive patients).
For genotyping, we use a range of precise methodologies:
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PCR method with gel electrophoresis (PCR-SSP) massively parallel sequencing (NGS) real-time PCR method
The evaluation of results is performed using special software that is linked to the international database of HLA alleles and is regularly updated in accordance with this database. This ensures maximum diagnostic value of the issued results.