Nucleic acid analysis in the clinical laboratory

Abstract Clinical molecular diagnostics is a rapidly growing and evolving field, and it is, therefore, essential to understand the fundamentals of how genetic material is studied and how results are interpreted by laboratorians and providers. This chapter covers the biochemistry of nucleic acids and the numerous tools that clinical laboratories use to study the human genome. The molecular methods discussed in this chapter include the Southern blot, fluorescence in situ hybridization, numerous types of polymerase chain reaction, microarrays, and next-generation sequencing. In addition, analytical characteristics, assay limitations, and result interpretation are included in this chapter. While this chapter does not detail every molecular diagnostic test available, it covers a broad spectrum of technologies that are critical to the clinical genomics laboratory and precision medicine.