Introduction to Molecular Diagnostics

Course overview

The introduction to Molecular Diagnostics lecture is designed to provide a broad background in the study of human genome structure and function, and how this knowledge is applied to clinical testing. This lecture will cover basic molecular biology concepts as well as genomic alterations that serve as molecular biomarkers in cancer. The foundations of major molecular techniques commonly performed in clinical laboratories, including Karyotype testing, Fluorescent in Situ Hybridization (FISH), chromosomal microarray, and PCR-based assays will be presented, and specimen requirements, advantages, and limitations of each technique will be discussed. Learning objectives - Describe basic elements of human genome, their structure and function. List specimen requirements, advantages, and limitations of major Molecular Diagnostics techniques. Select the appropriate technique for various biomarker detection.