Diagnostic Cytogenetics

The practice of diagnostic cytogenetics is used for the investigation, diagnosis, monitoring and treatment of diseases linked to genetic disorders. This course focuses on chromosomal abnormalities that exist in syndromes such as down syndrome or trisomy 21, as well as malignancies associated with cancer. About this micro-credential 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. The various techniques of karyotyping, FISH analysis, multiple ligation probe amplification, microarray, next genome sequencing (NGS) and whole genome sequencing (WGS) are introduced 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 and the use of genetic councillors. Key benefits of this micro-credential This micro-credential is designed to allow participants to: Develop an understanding of the role of cytogenetics in the broader pathology community and how its application is used diagnostically Learn interpretive skills needed for a role within a diagnostic cytogenetics laboratory setting. This micro-credential aligns with the 2 credit point subject, Diagnostic Cytogenetics (60004) in one the Master of Science (C04241) or Master of Medical Biotechnology (C04390). This micro-credential may qualify for recognition of prior learning at this and other institutions. Who should do this Micro-credential? This micro-credential is suitable for graduates with a passion for diagnostic pathology or genetics who wish to gain skills relevant to the laboratory. It may also be of interest to health professionals or current laboratory scientists who are working in pathology, who wish to gain a deeper understanding of the wider uses of cytogenetics and its role in disease classification, treatment and monitoring. Course learning objectives Disciplinary knowledge Professional, ethical, and social responsibility.