Molecular Diagnostics Applications in Clinical Laboratories

This technical report outlines the role of molecular diagnostics (MolDx) in clinical laboratories, focusing on key technologies such as real-time PCR (qPCR), digital PCR (dPCR), chromosomal microarrays (CMAs), Sanger sequencing (SS), and next-generation sequencing (NGS). The document discusses the significant increase in the market share of MolDx from 4% in 2000 to 24% in 2021, highlighting their advantages over traditional diagnostic methods in terms of sensitivity, specificity, and reliability. It details the applications of these technologies in diagnosing various conditions, including cancers and infectious diseases, as well as their economic aspects, including cost-effectiveness analyses for specific use cases. The report emphasizes the growing importance of MolDx in clinical settings, driven by advancements in technology and an increasing need for precise diagnostics. The limitations related to costs, complexity, and regulatory considerations are also addressed, providing a comprehensive view of the current landscape of molecular diagnostics.