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Molecular Diagnostics is a highly specialised and rapidly growing discipline in Medical Laboratory Science. Molecular Diagnostics 1 will enable students to extend their foundational knowledge of chromosomal structure and function, cellular processes and human physiology and apply it to a study of human disease at the molecular level. This course will provide students with the foundational theoretical knowledge that underpins a range of molecular diagnostic techniques supplemented with case studies that illustrate their application in medical diagnostics. This course will prepare students for further studies in this discipline in third year.

This course will explore the following four major themes: human cell biology and medical genetics; cytogenetic principles, nomenclature and molecular cytogenetics; chromosomal analysis in disease; and prenatal cytogenetics and fertility testing. Tutorials will extend the student's knowledge by providing problem-solving tasks, case study investigations and journal article discussions. This course contains a mandatory two-day residential school for both external and on-campus students. This residential school will provide students with the opportunity to apply their theoretical knowledge to practical cytogenetic testing and extended investigation of case studies in specific human diseases that are characterised by known genetic aberrations.

On completion of this course students should be able to:

1. describe the key processes associated with the cell cycle and division, chromosomal structure and function and fundamental medical genetic concepts;
2. explain fundamental cytogenetic principles, nomenclature, and the basic concepts that underpin cytogenetic testing in the diagnosis and screening of human disease;
3. follow standard procedures within the laboratory environment to develop fundamental skills in basic cytogenetic diagnostic techniques;
4. explain the theoretical concepts associated with common chromosomal aberrations and how these can result in human diseases, and the mechanisms involved in disease progression;
5. apply safe laboratory practices and professional and ethical standards associated with working in a clinical genetics laboratory;
6. communicate and work effectively both independently and in a team environment.