Molecular Diagnostics and Precision Genomics

Molecular Diagnostics and Precision Genomics

Modern genetic and molecular analyses with a focus on personalized medicine.

Department Overview

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

Diseases and Conditions

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

Diagnostics

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

Technology and Equipment

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.

Specialists

The laboratory operates with a multidisciplinary team of experts:

Sorry, no content found.
All doctors

Patient Journey

  • Appointment
    Contact and scheduling of the appropriate analysis.
  • Consultation
    Determination of the required testing in collaboration with a specialist.
  • Sample Collection
    Blood sample, swab, or other biological material collected under controlled conditions.
  • Laboratory Analysis
    Processing and genetic testing using advanced technology.
  • Report and Recommendations
    Detailed interpretation of results with guidance for further steps.
Мими може да ви помогне во закажувањето на Вашиот термин