Multiplexed nucleic acid-based assays for molecular diagnostics of human disease

In recent years, there has been an explosion of molecular tests developed to diagnose human disease, including tests to detect disease-causing pathogens, human genetic or protein markers indicative of disease (e.g., cancer and autoimmune disease), and genetic markers for predisposition to disease. Significant features of nucleic acid-based tests include high sensitivity and specificity, and the ability to multiplex or interrogate more than one marker simultaneously in each sample. Multiplex assays provide cost and information content advantages, and therefore allow for higher confidence results than singleplex assays. This article reviews the current state of the art in multiplexed nucleic acid-based techniques used for diagnosis of human disease and provides a glimpse of promising techniques for the future.