Diagnostics of Genetic Diseases (RLA_028)
About Study Course
Objective
To prepare laboratory doctors capable of performing diagnostics of genetic diseases and knowing basic principles of treatment. To use modern genetic examination methods for diagnostics and differential diagnostics of diseases. To use clinical, biochemical and cytogenetic methods in clinical genetics. To apply examination algorithms and to interpret the results. To master internal and external quality control methods in laboratory diagnostics of genetic diseases.
Learning outcomes
1.- to describe possibilities of using clinical and biochemical methods in clinical genetics;
- to describe possibilities of using cytogenetic methods in clinical genetics;
- to characterise the procedure of examination of elevated genetic risk pregnant women;
- to evaluate advantages of different groups of diagnostic methods;
- to describe principles of selective screening of genetic pathologies;
- to be familiar with the operation of the congenital anomaly register in Latvia.
1.- to prepare samples for genetic examination;
- to perform methods of obtaining chromosomes in prenatal diagnostics;
- to perform methods of obtaining chromosomes in postnatal diagnostics;
- to evaluate indications for, methods used in genetic biochemical examinations and obtained results;
- to perform biochemical screening for foetus’s Down syndrome, trisomy 13 and 18, using PAAP-A and b-HGT markers.
1.To perform a genetic examination of human biological material: to master medical genetic consulting principles, to be able to use congenital anomaly screening tests; to be able to use the procedure of examination of elevated genetic risk pregnant women for diagnostics of foetus’s congenital development anomalies.
To use examination algorithm for diagnostics of genetic diseases and to recommend further examination activity to clinicians.
