60004 Diagnostic Cytogenetics2cp; 1.5hpw x 6 (online collaborative workshops)
Diagnostic Cytogenetics is an introduction to modern laboratory practices commonly used in hospital and private pathology laboratories in the investigation of diseases with a suspected genetic anomaly. Students are introduced to the various techniques of karyotyping, FISH analysis, multiple ligation probe amplification, microarray, Next Genome Sequencing (NGS) and Whole Genome Sequencing (WGS) alongside techniques to interpret and report the results of the tests.
The use of case studies provides a way to synthesise knowledge about common genetic diseases, clinical features, screening, and diagnostic tests; and expected laboratory findings associated with those diseases in a pathology setting.
Principles of biomedical ethics are introduced in the context of the provision of genetic services, particularly the role of prenatal screening, whole genome sequencing as well as the use of genetic councillors.
Detailed subject description.