The examination will cover all aspects of clinical cytogenetics, including prenatal and postnatal diagnosis, cancer cytogenetics (leukaemia and solid tumours) molecular cytogenetics and chromosome breakage syndromes. Candidates should have a sound understanding of human genetics and genomics, and a basic knowledge of molecular genetics. An understanding of the role of related disciplines such as biochemistry, immunology, microbiology, haematology and histopathology within the patient pathway is required.
A detailed and up-to-date knowledge of the following subjects is required: the structure and function of the human genome, the structure and function of human chromosomes, the clinical relevance of chromosome abnormalities – both constitutional and acquired, the practical techniques used for the preparation and analysis of chromosome preparations and molecular cytogenetics including FISH and microarray CGH.
A general knowledge of the following areas is required: a general knowledge of the sciences basic to genetics with particular reference to human genetics, Mendelian inheritance, disease gene identification, the fundamental principles of cell biology, aspects of epidemiology, statistics, common genetic disorders and the principles of genomic technology.
Candidates should have experience in the interpretation of results and the compilation of reports. Candidates should also have knowledge of the administrative aspects of laboratory safety and basic laboratory management principles including audit, quality control, risk assessment, health and safety, and good laboratory practice. Candidates should maintain awareness of current research and development within the field.
Information on the Part 1 Examination (including sample questions) can be found under Genetics.
For information on the changes to the Genetics Examinations see the News section.