Molecular diagnostics: techniques and applications

This chapter studies molecular diagnostics, which is the use of widely varied techniques and platforms to profile variation in a broad array of biomolecules, supporting medical decisions regarding the diagnosis of disease, patient prognosis, and prediction of response to treatments and interventions. The chapter begins by outlining the essential theory and concepts of DNA replication and translation. It then looks at the polymerase chain reaction, before explaining the basic principles, organic or semi-synthetic, which underlie the broad range of techniques utilized in the molecular pathology laboratory. The chapter also considers molecular diagnostic processing and testing. Finally, it discusses nucleic acid extraction and explores the different PCR analysis methods.