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Background Molecular diagnostics and its parent field, molecular pathology, examine the origins of disease at the molecular level, primarily by studying nucleic acids. Deoxyribonucleic acid (DNA), which contains the blueprint for constructing a living organism, is the centerpiece for research and clinical analysis. Molecular pathology is an outgrowth of the enormous amount of successful research in the field of molecular biology that has discovered over the last seven decades the basic biological and chemical processes of how a living cell functions. The success of molecular biology, as noted by the large number of Nobel prizes awarded for its discoveries, is now used for clinical diagnosis and the development and use of therapeutics. Content The following chapters are devoted to describing this field and the specific applications currently being used to characterize and help treat patients with a variety of ailments, including hereditary genetic diseases, cancer neoplasms, and infectious diseases. In this chapter the fundamentals of molecular biology are reviewed, followed by a focus on genomes and their variants in Chapter 2 . In Chapters 3 and 4 Chapter 3 Chapter 4 techniques for isolating and analyzing nucleic acids are discussed. The clinically important subdivisions of molecular diagnostics are then reviewed and include microbiology in Chapter 5 , genetics in Chapter 6 , solid tumors in Chapter 7 , and hematopoietic malignancies in Chapter 8 . Chapters 9 and 10 Chapter 9 Chapter 10 are devoted to the molecular diagnostic analysis of circulating tumor cells and circulating nucleic acids. Finally, pharmacogenetics and identity assessment are the focus of Chapters 11 and 12 Chapter 11 Chapter 12 . |
