Syllabus
1. Introduction Possibilities and limits of molecular-genetic testing, ethical and financial aspects, communication with patients and interpretation of results.
2. Samples and molecular markers Types of samples (blood, tissue, buccal swab, plasma, archived specimens, amniotic fluid, urine ...), their occurrence, properties and possibilities of examination. DNA molecular markers, their properties, method of detection and possibilities of their use - mutations, polymorphisms, deletions, insertions, amplification, methylation ...
3. Techniques most often used in clinical laboratories - theoretical part NA isolation, spectrophotometry, PCR, real time PCR, gel electrophoresis, capillary electrophoresis
4. Techniques most commonly used in clinical laboratories - practical part (Genomac laboratory)
5. -
6. Diagnostic methods, their use and limits, practical examples (AS PCR, MS PCR, qRT-PCR, RFLP, sequencing, hybridization, fragment analysis, LOH, MLPA, DCE, dHPLC, HRM, NGS....)
7. Prenatal and preimplantation diagnostics, IVF, congenital diseases in children and adults - theory and examples from clinical practice
8. Preventive diagnostics, genetic screening, pharmacogenetics, forensic testing - theory and examples from clinical practice
9. Congenital and acquired tumor diseases (tumor syndromes, leukemia, diagnostics and characteristics of solid tumors, estimation of disease prognosis and response to treatment) - theory and examples from clinical practice
Annotation
The lecture is focused on the most common DNA examinations, which are currently routinely performed in clinical laboratories ranging from prenatal and preimplantation diagnostics through examination of congenital genetic disorders up to molecular characterization of solid tumors. Part of the lecture are concrete cases from practice and one day practical course.
After completing the lecture, students will have an overview of routinely work in clinical laboratories, what methodologies are used here and for what purposes.