Course overview
This course is designed to provide students with an understanding of the application of biochemical and molecular techniques for the detection, monitoring and assessment of metabolic and genetic diseases. Role of the clinical chemistry laboratory in diagnosis of diseases. Specimen collection and handling. Quality assurance; sources of error. Use and establishment of reference intervals. Laboratory investigation of disorders of water and electrolyte balance; acid/base balance; kidney function; liver function; carbohydrate metabolism; calcium and phosphate metabolism. Laboratory automation. Eukaryote genes: structure, function and control; translation control. Genomics. DNA sequence analysis, gene mapping; ethical issues. Diagnostic techniques: nucleic acid amplification, mutation detection, gene expression analysis, chromosome analysis and protein detection. Therapy for genetic diseases.
Course learning outcomes
- Demonstrate an understanding of the role of the clinical biochemistry laboratory and quality assurance.
- Demonstrate a clear understanding of the chemical pathology and laboratory investigation of various metabolic disturbances including those relating to osmolality and electrolytes; blood gases and acid/base homeostasis; glucose regulation; liver and renal function; calcium and phosphate metabolism.
- Perform basic biochemical techniques and automated clinical chemistry analyses related to diagnosis and detection of metabolic diseases and demonstrating fundamentals of quality control, reference intervals and statistical applications.
- Demonstrate a clear understanding of the mechanisms of human genetic diseases and methods available for diagnosing genetic diseases.