Molecular Diagnostics and Precision Genomics

The Laboratory for Molecular Diagnostics and Precision Genomics provides modern genetic and molecular analyses with a focus on personalized medicine.

By applying advanced genomic technologies, the laboratory supports clinical decision-making – from the diagnosis of hereditary and rare diseases to therapy selection and disease risk assessment.

The laboratory operates in two main areas:

– Human genetics and genetic diagnostics
– Molecular diagnostics of infectious diseases

The laboratory analyzes:

Hereditary and rare genetic disorders

diagnosis of conditions with a genetic basis in children and adults
Cardiovascular genetic diseases

cardiomyopathies, arrhythmias, channelopathies, and aortopathies
Genetic hematological disorders

thrombophilia, coagulopathies, and pregnancy-related disorders
Metabolic and endocrine diseases

genetic disorders of metabolism and hormonal regulation
Neurological and neuromuscular diseases

genetic basis of epilepsy, neuropathies, and muscle diseases
Ophthalmological genetic disorders

inherited diseases of the retina and vision
Genetic cancer risk

identification of hereditary mutations associated with cancer
Tumor profiling

analysis of somatic mutations for selection of targeted therapy
Infectious diseases

detection of viruses, bacteria, and parasites using molecular methods
Urogenital infections

analysis of vaginal and urethral microflora and the presence of pathogens

The laboratory performs advanced genetic and molecular analyses:

Genetic Diagnostics and Counseling

Genetic consultation – selection of the appropriate test, interpretation of results, and counseling before and after testing
Rare disease diagnostics – through gene panels, exome sequencing, and whole genome sequencing in children and adults
Carrier status testing – identification of genetic risks for transmission of hereditary diseases

Prenatal and Hereditary Diagnostics

Non-invasive prenatal testing (NIPT – Verifi) – screening for chromosomal abnormalities and microdeletions from maternal blood
Hereditary cancer risk (NGS panels) – analysis of genes associated with hereditary cancers for risk assessment and prevention planning
HLA typing – genetic analysis of HLA markers for specific clinical indications

Cardiovascular and Hematological Genetics

Genetic analysis of cardiovascular diseases – cardiomyopathies, arrhythmias, and inherited vascular conditions
Thrombophilia and folate metabolism (F2/F5/MTHFR) – assessment of genetic risk for thrombosis and pregnancy complications

Personalized Medicine and Pharmacogenetics

Pharmacogenetics – analysis of individual response to medication and risk of adverse effects
Personalized medicine through genetics – genotyping and genomic sequencing for assessment of individual risk and therapy selection

Nutrigenetics and Intolerances

Nutrigenetics – analysis of genetic factors related to nutrition and metabolism
Food intolerance testing – genetic tests for gluten, lactose, and other dietary factors

Oncogenetics and Tumor Profiling

Tumor profiling – analysis of somatic mutations for the selection of targeted therapy and immunotherapy

Molecular Diagnostics of Infections

PCR diagnostics – detection of DNA and RNA of pathogenic microorganisms
Infectious disease panels – respiratory, gastrointestinal, and sexually transmitted infections
Urogenital microflora (Androflor and Femoflor) – analysis of the microbiological balance in men and women

Additional Analyses

Paternity testing – DNA profiling to determine biological relatedness with high accuracy

The laboratory is equipped with modern technology that provides high precision, reliability, and speed in genetic and molecular diagnostics:

Real-Time PCR systems

enable rapid and highly sensitive detection of genetic changes and infectious pathogens through real-time DNA and RNA analysis.
Next Generation Sequencing (NGS)

advanced technology for analysis of genes, exome, and whole genome, enabling detection of a broad range of genetic variants with high accuracy.
Oxford Nanopore platform

innovative technology for sequencing long DNA fragments, enabling detection of complex genetic changes and structural variations.
DNA extraction robots

automated systems for isolation and preparation of genetic material, with minimal risk of contamination and high reproducibility of results.
Bioinformatics systems

advanced software tools for analysis, processing, and interpretation of genetic data, enabling clinically relevant and precise reports.