Molecular diagnostics is called the detection of genomic variants, aiming to facilitate detection, prognosis, subclassification, diagnosis, and tracking reaction to therapy. Molecular diagnostics is the final results of the fruitful interaction among laboratory medicinal drug, genomics understanding, and generation inside the discipline of molecular genetics, mainly with big discoveries in the area of molecular genomic technologies. All those factors make contributions to the identification and best characterization of the genetic basis of inherited sicknesses which, in turn, is essential for the accurate provision of analysis. High-throughput strategies, along with subsequent-generation sequencing or genome-huge association studies, offer precious insights into the mechanisms of disorder, and genomic biomarkers permit physicians to not most effective assess disorder predisposition however additionally to design and implement correct diagnostic strategies and to individualize healing remedy modalities. In this chapter, we offer an overview of the field of molecular diagnostics and of the molecular diagnostic techniques which might be defined in the chapters which can be included on this textbook.