Molecular diagnostics is the branch of laboratory medicine or clinical pathology that utilizes the techniques of molecular biology to diagnose disease, predict disease course, select treatments, and monitor the effectiveness of therapies.
Techniques such as qPCR and qRT-PCR use molecular biology techniques to amplify and detect DNA and RNA sequences for research or diagnosis purposes. The PCR method still remains the gold standard for amplification assays in molecular diagnostics due to its simplicity and cost effectiveness.
Four dominant technologies used are:
- PCR (includes qPCR, qRTPCR, ddPCR)
- Sequencing (Includes Sanger sequencing and NGS)
- Fluorescence in situ hybridization (FISH)