It is a theoretical course designed to provide students with a comprehensive understanding of the theoretical principles of molecular biology and cytogenetics and their applications at the diagnostic level. The topics of this course are Modes of inheritance, Pedigree analysis, Genetic Variation and Mutation Analysis, DNA Sequencing and Next-Generation Sequencing (NGS), application of molecular and cytogenetic diagnostic techniques in the health service including knowledge about common genetic diseases, clinical features, screening, and available diagnostic tests, population screening, cellular pathology and how to interpret and report the results of the tests. This course will also cover genetic counselling and ethical and regulatory considerations.