Video tour
Watch a video tour of the Laboratory of Genomics and Prenatal Diagnostics.
The laboratory focuses on a wide range of genetic and epigenetic analyses. Besides the standard molecular-genetic methods, our portfolio includes also more elaborated microarray technology and massive parallel sequencing (NGS).
In addition to our scientific research activities, the laboratory also intensively participates in the implementation of personalized, predictive and preventive medicine into clinical practice. In close cooperation with the University Hospital in Martin, we mainly focus on the determinants of oncological, cardiovascular and hematological diseases. We also offer modern and popular non-invasive fetal testing from maternal blood.
Our laboratory has been using the state-of-the-art sequencing platforms from Illumina company (NextSeq, MiSeq and HiSeq) for more than five years. We mainly focus on the entire genome sequencing, targeted resequencing based on the PCR approach, as well as on hybrid capture of target fragments.
Equipment of the lab also allows to perform other techniques such as RNA sequencing – expression profile determination, sequencing of small non-coding RNAs and many others.
Thanks to the cooperation with the Institute of Molecular Biology and Genomics JFMED CU, our laboratory is able to perform multiple DNA and RNA analyses using the methods of ddPCR, Sanger sequencing, HRM, TagMan, RT-PCR and the others.
In the field of epigenetics, our laboratory predominantly focuses on the detection of methylation of CpG islands by quantitative pyrosequencing. The MS MLPA technique is used to detect DNA methylation changes, DNA copy number variability (CNV), as well as a methylation-specific PCR. The laboratory has extensive experience with miRCURY LNA miRNA method to perform the analysis of miRNA expression in several diagnoses. We have also introduced a microarray technology for tissue and plasma miRNA analyses.
Using CRISPR/Cas9 technology, we are able to create experimental cell lines with impaired expression of selected genes or modify these genes by introducing mutations. Moreover, we are able to label selected genes with sequences coding for fluorescent proteins, which allows us to gain new insights into the function of these genes. For this purpose, we have introduced methodologies for the preparation of plasmids and lentiviral vectors using advanced gene manipulation techniques, such as Gibson assembly, overlapping PCR, or site-directed mutagenesis, as well as cell culture techniques.
Watch a video tour of the Laboratory of Genomics and Prenatal Diagnostics.
The laboratory uses several devises of the Department of Molecular Biology and Genomics, JFMED CU. This collaboration has created a modern and excellent instrument portfolio that allows the selection of the most appropriate method according to the research and required analyses.
Main instruments: MiSeq (Illumina), NextSeq Dx (Illumina), SureScan Dx Microarray Scanner (Agilent), Droplet Digital PCR System (Bio-Rad), PyroMark Q96 ID (Qiagen), LightCycler 480 II (Roche), 3500 Genetic Analyzer (Applied Biosystems), Q-Tower3 G (Analytik Jena), TOne (Analytik Jena), Bioanalyser 2100 (Agilent), QSep 100 (BiOptic), Qubit 4 fluorometer (Thermo Fisher Scientific), NanoDropTM OneC Microvolume UV-Vis Spectrophotometers (Thermo Scientific) and other.
Take a virtual tour of our modern Laboratory of Genomics and Prenatal Diagnostics.
ITMS 313011AUA4: New possibilities for laboratory diagnostics and massive screening of SARS-Cov-2 and identification of mechanisms of virus behavior in the human body. Operational Program Integrated Infrastructure. CovLab.
ITMS 310031AMR7: Management of emergency situations related to COVID-19 coordinated by the Ministry of Health of the Slovak Republic. Operational Program: Environmental Quality 2014 – 2020.
ITMS: 313011AFG5: Systemic public research infrastructure – biobank for cancer and rare diseases. Operational Program Integrated Infrastructure 2014-2020. Bioford.
ITMS: 313011AFG4: Creation of a digital biobank to support the systemic public research infrastructure. Digibiobanka.
ITMS 313011V446: Integrative strategy in the development of personalized medicine of selected malignant tumors and its impact on quality of life. Operational Program Integrated Infrastructure 2014-2020. Lisper.
ITMS 313011V344: Long-term strategic research on prevention, intervention and mechanisms of obesity and its comorbidities. Operational Program Integrated Infrastructure 2014-2020. Obesity.
VEGA1/0286/22: Complex profile of hormone-dependent women cancers determining early diagnosis, targeted personalized therapy and prediction of the disease recurrence.
(Principal Investigator: doc. RNDr. Zuzana Danková, PhD.)
VEGA 1/0261/22: Preparation of the Molecular Tools for Imaging of Spatio-temporal Dynamics of SARS-CoV-2 Entry into the Cell Using High-resolution 3D Microscopy in Real-time.
(Principal Investigator: RNDr. Vincent Lučanský, PhD.)
CO-INVESTIGATOR PROJECTS:
APVV-21-0372: Development of XenoPig – a large, orthotopic xenograft animal model for modeling human pancreatic cancer.
(Principal Investigator: Ing. Ján Strnádel, PhD.)
APVV-17-0369: DNA methylation as a target for epigenetic editing and its utilization in personalizing the diagnosis and therapy of uveal melanoma.
(Principal Investigator: Mgr. Božena Smolková, PhD.)
VEGA 1/0310/18: An association beteween early onset of microvascular complications and dysregulation of hemostasis in children with type 1 diabetes.
(Principal Investigator: MUDr. Jarmila Vojtková, PhD.)
VEGA 1/0380/18: Analysis of methylated DNA sequences in plasma as universal biomarker for monitoring of colorectal cancer recurrence.
(Principal Investigator: doc. RNDr. Zora Lasabová, PhD.)
Loderer D, Hornáková A, Tobiášová K, Lešková K, Halašová E, Danková Z, Biringer K, Kúdela E, Rokos T, Dzian A, Miklušica J, Mikolajčík P, Smolár M, Plank L, Grendár M. Comparison of next‑generation sequencing quality metrics and concordance in the detection of cancer‑specific molecular alterations between formalin‑fixed paraffin‑embedded and fresh‑frozen samples in comprehensive genomic profiling with the Illumina® TruSight Oncology 500 assay. Exp Ther Med. 2025 Feb 4;29(4):64. doi: 10.3892/etm.2025.12814.
Kolkova Z, Suroviakova S, Grendar M, Havlicekova Z, Hornakova A, Holubekova V, Halasova E, Banovcin P. Altered miRNA expression in duodenal tissue of celiac patients and the impact of a gluten-free diet: a preliminary study. Mol Biol Rep. 2025 Apr 30;52(1):441. doi: 10.1007/s11033-025-10534-y.
Dvorska D, Sebova D, Kajo K, Kapinova A, Svajdlenka E, Goga M, Frenak R, Treml J, Mersakova S, Strnadel J, Mazurakova A, Baranova I, Halasova E, Brozmanova M, Biringer K, Kassayova M, Dankova Z, Smejkal K, Hornak S, Mojzis J, Sadlonova V, Brany D, Kello M, Kubatka P. Chemopreventive and therapeutic effects of Hippophae rhamnoides L. fruit peels evaluated in preclinical models of breast carcinoma. Front Pharmacol. 2025 Apr 30;16:1561436. doi: 10.3389/fphar.2025.1561436.
Soltysova A, Dvorska D, Ficek A, Pecimonova M, Samec M, Kasubova I, Horvathova Kajabova V, Demkova L, Babal P, Valaskova J, Dankova Z, Smolkova B, Furdova A. Clinical Value of MLPA for Prognostic Assessment of Chromosomal Rearrangements and DNA Methylation in Uveal Melanoma. Invest Ophthalmol Vis Sci. 2025 Mar 3;66(3):51. doi: 10.1167/iovs.66.3.51.
Golubnitschaja O, Kapinova A, Sargheini N, Bojkova B, Kapalla M, Heinrich L, Gkika E, Kubatka P. Mini-encyclopedia of mitochondria-relevant nutraceuticals protecting health in primary and secondary care-clinically relevant 3PM innovation. EPMA J. 2024 Apr 18;15(2):163-205. doi: 10.1007/s13167-024-00358-4.
Skerenova M, Cibulka M, Dankova Z, Holubekova V, Kolkova Z, Lucansky V, Dvorska D, Kapinova A, Krivosova M, Petras M, Baranovicova E, Baranova I, Novakova E, Liptak P, Banovcin P, Bobcakova A, Rosolanka R, Janickova M, Stanclova A, Gaspar L, Caprnda M, Prosecky R, Labudova M, Gabbasov Z, Rodrigo L, Kruzliak P, Lasabova Z, Matakova T, Halasova E. Host genetic variants associated with COVID-19 reconsidered in a Slovak cohort. Adv Med Sci. 2024 Mar;69(1):198-207. doi: 10.1016/j.advms.2024.03.007.
Vargova D, Kolková Z, Dargaj J, Bris L, Luptak J, Dankova Z, Franova S, Svihra J, Slávik P, Sutovska M. Analysis of HIF-1α expression and genetic polymorphisms in human clear cell renal cell carcinoma. Pathol Oncol Res. 2024 Jan 11;29:1611444. doi: 10.3389/pore.2023.1611444.
Kolkova Z, Durdik P, Holubekova V, Durdikova A, Jesenak M, Banovcin P. Identification of a novel RPGR mutation associated with retinitis pigmentosa and primary ciliary dyskinesia in a Slovak family: a case report. Front Pediatr. 2024 Jan 25;12:1339664. doi: 10.3389/fped.2024.1339664
Baranová I, Samec M, Dvorská D, Šťastný I, Janíková K, Kašubová I, Hornáková A, Lukáčová E, Kapinová A, Biringer K, Halašová E, Danková Z. Droplet digital PCR analysis of CDH13 methylation status in Slovak women with invasive ductal breast cancer. Sci Rep. 2024 Jun 26;14(1):14700. doi: 10.1038/s41598-024-65580-6.
Lucansky V, Samec M, Burjanivova T, Lukacova E, Kolkova Z, Holubekova V, Turyova E, Hornakova A, Zaborsky T, Podlesniy P, Reizigova L, Dankova Z, Novakova E, Pecova R, Calkovska A, Halasova E. Comparison of the methods for isolation and detection of SARS-CoV-2 RNA in municipal wastewater. Front Public Health. 2023 Mar 7;11:1116636. doi: 10.3389/fpubh.2023.1116636.
Rosolanka R, Liptak P, Baranovicova E, Bobcakova A, Vysehradsky R, Duricek M, Kapinova A, Dvorska D, Dankova Z, Simekova K, Lehotsky J, Halasova E, Banovcin P. Changes in the Urine Metabolomic Profile in Patients Recovering from Severe COVID-19. Metabolites. 2023 Feb 28;13(3):364. doi: 10.3390/metabo13030364.
Kapinova A, Mazurakova A, Halasova E, Dankova Z, Büsselberg D, Costigliola V, Golubnitschaja O, Kubatka P. Underexplored reciprocity between genome-wide methylation status and long non-coding RNA expression reflected in breast cancer research: potential impacts for the disease management in the framework of 3P medicine. EPMA J. 2023 May 22;14(2):249-273. doi: 10.1007/s13167-023-00323-7.
Janíková K, Váňová B, Grendár M, Samec M, Loderer D, Kašubová I, Škereňová M, Farkašová A, Scheerová K, Slávik P, Lasabová Z, Danková Z, Strnádel J, Halašová E, Plank L. Small-scale variants and large deletions in BRCA1/2 genes in Slovak high-grade serous ovarian cancer. Pathol Res Pract. 2023 Jun;246:154475. doi: 10.1016/j.prp.2023.154475.
Holubekova V, Loderer D, Grendar M, Mikolajcik P, Kolkova Z, Turyova E, Kudelova E, Kalman M, Marcinek J, Miklusica J, Laca L, Lasabova Z. Differential gene expression of immunity and inflammation genes in colorectal cancer using targeted RNA sequencing. Front Oncol. 2023 Oct 5;13:1206482. doi: 10.3389/fonc.2023.1206482.
Burjanivova T, Lukacova E, Lucansky V, Samec M, Podlesniy P, Kolkova Z, Reizigova L, Grendar M, Turyova E, Holubekova V, Malicherova B, Nosal V, Kasubova I, Dusenka R, Osinova D, Hosalova Matisova J, Dvorska D, Brany D, Dankova Z, Novakova E, Calkovska A, Halasova E. Sensitive SARS-CoV-2 detection, air travel Covid-19 testing, variant determination and fast direct PCR detection, using ddPCR and RT-qPCR methods. Acta Virol. 2023;67(1):3-12. doi: 10.4149/av_2023_101.
Rusňáková D, Sedláčková T, Radvák P, Böhmer M, Mišenko P, Budiš J, Bokorová S, Lipková N, Forgáčová-Jakúbková M, Sládeček T, Sitarčík J, Krampl W, Gažiová M, Kaliňáková A, Staroňová E, Tichá E, Vrábľová T, Ševčíková L, Kotvasová B, Maďarová L, Feiková S, Beňová K, Reizigová L, Onderková Z, Ondrušková D, Loderer D, Škereňová M, Danková Z, Janíková K, Halašová E, Nováková E, Turňa J, Szemes T. Systematic Genomic Surveillance of SARS-CoV-2 Virus on Illumina Sequencing Platforms in the Slovak Republic-One Year Experience. Viruses. 2022 Nov 2;14(11):2432. doi: 10.3390/v14112432.
Zahumenska R, Kalman M, Marcinek J, Mersakova S, Kertys M, Pindura M, Palkoci B, Kycina R, Vojtko M, Chromec T, Dumortier HM, Skovierova H, Novakova S, Mitruskova B, Kapralik I, Loderer D, Grendar M, Brany D, Mokry J, Bouvet M, Valasek MA, Janik J, Plank L, Laca L, Halasova E, Strnadel J. Establishment of PANDA – a new human pancreatic ductal adenocarcinoma cell line with 3D cell culture technology. Neoplasma. 2022 Jan;69(1):165-173. doi: 10.4149/neo_2021_210924N1360.
Liptak P, Baranovicova E, Rosolanka R, Simekova K, Bobcakova A, Vysehradsky R, Duricek M, Dankova Z, Kapinova A, Dvorska D, Halasova E, Banovcin P. Persistence of Metabolomic Changes in Patients during Post-COVID Phase: A Prospective, Observational Study. Metabolites. 2022 Jul 13;12(7):641. doi: 10.3390/metabo12070641.
Kudelova E, Smolar M, Holubekova V, Hornakova A, Dvorska D, Lucansky V, Koklesova L, Kudela E, Kubatka P. Genetic Heterogeneity, Tumor Microenvironment and Immunotherapy in Triple-Negative Breast Cancer. Int J Mol Sci. 2022 Nov 29;23(23):14937. doi: 10.3390/ijms232314937.
Kudelova E, Holubekova V, Grendar M, Kolkova Z, Samec M, Vanova B, Mikolajcik P, Smolar M, Kudela E, Laca L, Lasabova Z. Circulating miRNA expression over the course of colorectal cancer treatment. Oncol Lett. 2022 Jan;23(1):18. doi: 10.3892/ol.2021.13136.
Rokos T, Holubekova V, Kolkova Z, Hornakova A, Pribulova T, Kozubik E, Biringer K, Kudela E. Is the Physiological Composition of the Vaginal Microbiome Altered in High-Risk HPV Infection of the Uterine Cervix? Viruses. 2022 Sep 27;14(10):2130. doi: 10.3390/v14102130.
Holubekova V, Kolkova Z, Kasubova I, Samec M, Mazurakova A, Koklesova L, Kubatka P, Rokos T, Kozubik E, Biringer K, Kudela E. Interaction of cervical microbiome with epigenome of epithelial cells: Significance of inflammation to primary healthcare. Biomol Concepts. 2022 Mar 2;13(1):61-80. doi: 10.1515/bmc-2022-0005.
Stančiaková L, Žolková J, Vadelová Ľ, Hornáková A, Kolková Z, Vážan M, Dobrotová M, Hollý P, Jedináková Z, Grendár M, Bolek T, Samoš M, Biringer K, Danko J, Burjanivová T, Lasabová Z, Kubisz P, Staško J. DNA Polymorphisms in Pregnant Women with Sticky Platelet Syndrome. J Clin Med. 2022 Nov 3;11(21):6532. doi: 10.3390/jcm11216532.
Simurda T, Asselta R, Zolkova J, Brunclikova M, Dobrotova M, Kolkova Z, Loderer D, Skornova I, Hudecek J, Lasabova Z, Stasko J, Kubisz P. Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management. Diagnostics (Basel). 2021 Nov 19;11(11):2140. doi: 10.3390/diagnostics11112140.
Dankova Z, Novakova E, Skerenova M, Holubekova V, Lucansky V, Dvorska D, Brany D, Kolkova Z, Strnadel J, Mersakova S, Janikova K, Samec M, Pokusa M, Petras M, Sarlinova M, Kasubova I, Loderer D, Sadlonova V, Kompanikova J, Kotlebova N, Kompanikova A, Hrnciarova M, Stanclova A, Antosova M, Dzian A, Nosal V, Kocan I, Murgas D, Krkoska D, Calkovska A, Halasova E. Comparison of SARS-CoV-2 Detection by Rapid Antigen and by Three Commercial RT-qPCR Tests: A Study from Martin University Hospital in Slovakia. Int J Environ Res Public Health. 2021 Jul 1;18(13):7037. doi: 10.3390/ijerph18137037.
Vojtková J, Kolková Z, Motyková K, Kostková M, Suroviaková S, Grendár M, Bánovčin P. An association between fibrinogen gene polymorphisms and diabetic peripheral neuropathy in young patients with type 1 diabetes. Mol Biol Rep. 2021 May;48(5):4397-4404. doi: 10.1007/s11033-021-06455-1.
Kolkova Z, Holubekova V, Grendar M, Nachajova M, Zubor P, Pribulova T, Loderer D, Zigo I, Biringer K, Hornakova A. Association of Circulating miRNA Expression with Preeclampsia, Its Onset, and Severity. Diagnostics (Basel). 2021 Mar 8;11(3):476. doi: 10.3390/diagnostics11030476.
Janíková K, Váňová B, Grendár M, Samec M, Líšková A, Loderer D, Kašubová I, Farkašová A, Scheerova K, Slávik P, Lasabová Z, Danková Z, Plank L. High-grade serous ovarian carcinoma and detection of inactivated BRCA genes from biopsy material of Slovak patients. Neoplasma. 2021 Sep;68(5):1107-1112. doi: 10.4149/neo_2021_210226N256.
Mikolajcik P, Lasabova Z, Loderer D, Grendar M, Kalman M, Kasubova I, Lucansky V, Wiederhold AJ, Marcinek J, Burjanivova T, Kudelova E, Vojtko M, Svec A, Plank L, Janik J, Laca L. Detection of therapeutically relevant and concomitant rare somatic variants in colorectal cancer. Neoplasma. 2021 Nov;68(6):1331-1340. doi: 10.4149/neo_2021_210616N804.
Brndiarova M, Mraz M, Kolkova Z, Cisarik F, Banovcin P. Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings. Mol Syndromol. 2021 Jul;12(4):263-267. doi: 10.1159/000515645.
Jašek K, Grendár M, Štanclová A, Malicherová B, Kašubová I, Burjanivová T, Szépe P, Ciccocioppo R, Rodrigo L, Prosecký R, Kružliak P, Plank L, Lasabová Z. Prevalence and significance of M541L singlenucleotide polymorphism in the central European cohort of gastrointestinal stromal tumor patients. Journal of cancer research and clinical oncology. Roč. 147, č. 4 (2021), s. 1203-1215.
Simurda T, Zolkova J, Kolkova Z, Loderer D, Dobrotova M, Skornova I, Brunclíkova M, Grendar M, Lasabova Z, Stasko J, Kubisz P. Comparison of clinical phenotype with genetic and laboratory results in 31 patients with congenital dysfibrinogenemia in northern Slovakia. Int J Hematol. 2020 Jun;111(6):795-802. doi: 10.1007/s12185-020-02842-9.
Simurda T, Caccia S, Asselta R, Zolkova J, Stasko J, Skornova I, Snahnicanova Z, Loderer D, Lasabova Z, Kubisz P. Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop). J Thromb Thrombolysis. 2020 Jul;50(1):233-236. doi: 10.1007/s11239-019-01991-x.
Zolkova J, Sokol J, Simurda T, Vadelova L, Snahnicanova Z, Loderer D, Dobrotova M, Ivankova J, Skornova I, Lasabova Z, Kubisz P, Stasko J. Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives. Semin Thromb Hemost. 2020 Jun;46(4):484-500. doi: 10.1055/s-0039-3402430.
Bystricky P, Kasubova I, Richterova R, Lasabova Z, Kolarovszki B. Quantitative analysis of 2-hydroxyglutarate as a controversial oncometabolite in malignant gliomas. Neoplasma. 2020 Nov;67(6):1367-1372. doi: 10.4149/neo_2020_200302N216.
Jašek K, Váňová B, Grendár M, Štanclová A, Szépe P, Hornáková A, Holubeková V, Plank L, Lasabová Z. BRAF mutations in KIT/PDGFRA positive gastrointestinal stromal tumours (GISTs): Is their frequency underestimated? Pathol Res Pract. 2020 Nov;216(11):153171. doi: 10.1016/j.prp.2020.153171.
Snahnicanova Z, Kasubova I, Kalman M, Grendar M, Mikolajcik P, Gabonova E, Laca L, Caprnda M, Rodrigo L, Ciccocioppo R, Kruzliak P, Plank L, Lasabova Z. Genetic and epigenetic analysis of the beta-2-microglobulin gene in microsatellite instable colorectal cancer. Clin Exp Med. 2020 Feb;20(1):87-95. doi: 10.1007/s10238-019-00601-7.
Holubekova V, Kolkova Z, Grendar M, Brany D, Dvorska D, Stastny I, Jagelkova M, Zelinova K, Samec M, Liskova A, Laucekova Z, Kudela E, Bobrovska M, Kalman M, Zubor P, Dankova Z. Pathway Analysis of Selected Circulating miRNAs in Plasma of Breast Cancer Patients: A Preliminary Study. Int J Mol Sci. 2020 Oct 2;21(19):7288. doi: 10.3390/ijms21197288.
Simurda T, Vilar R, Zolkova J, Ceznerova E, Kolkova Z, Loderer D, Neerman-Arbez M, Casini A, Brunclikova M, Skornova I, Dobrotova M, Grendar M, Stasko J, Kubisz P. A Novel Nonsense Mutation in FGB (c.1421G>A; p.Trp474Ter) in the Beta Chain of Fibrinogen Causing Hypofibrinogenemia with Bleeding Phenotype. Biomedicines. 2020 Dec 13;8(12):605. doi: 10.3390/biomedicines8120605. PMID: 33322159; PMCID: PMC7763967.
Holubekova V, Mersakova S, Grendar M, Snahnicanova Z, Kudela E, Kalman M, Lasabova Z, Danko J, Zubor P. The Role of CADM1 and MAL Promoter Methylation in Inflammation and Cervical Intraepithelial Neoplasia. Genet Test Mol Biomarkers. 2020;24(5):256-263. doi: 10.1089/gtmb.2019.0188.
The result of the EU-funded BioMed Martin project is a revolutionary research center that develops new diagnostic and therapeutic methods and at the same time strengthens cooperation between the city of Martin and the Žilina Region in Slovakia.