The aim of molecular diagnostics is preferentially to detect a developing disease before any symptoms appear. There has been a significant increase, fueled by technologies from the human genome project, in the availability of nucleic acid sequence information for all living organisms including bacteria and viruses. When combined with a different type of instrumentation applied, the resulting diagnostics is specific and sensitive. Nucleic acid-based medical diagnosis detects specific DNAs or RNAs from the infecting organism or virus and a specific gene or the expression of a gene associated with a disease. Nucleic acid approaches also stimulate a basic science by opening lines of inquiry that will lead to greater understanding of the molecules at the center of life. One can follow Richard Feynman’s famous statement “What I cannot create, I do not understand.”

Diagnostic Molecular Biology, Second Edition describes the fundamentals of molecular biology in a clear, concise manner with each technique explained within its conceptual framework and current applications of clinical laboratory techniques comprehensively covered. This targeted approach covers the principles of molecular biology, including basic knowledge of nucleic acids, proteins and chromosomes; the basic techniques and instrumentations commonly used in the field of molecular biology, including detailed procedures and explanations; and the applications of the principles and techniques currently employed in the clinical laboratory. Topics such as whole exome sequencing, whole genome sequencing, RNA-seq, and ChIP-seq round out the discussion. Fully updated, this new edition adds recent advances in the detection of respiratory virus infections in humans, like influenza, RSV, hAdV, hRV but also corona. This book expands the discussion on NGS application and its role in future precision medicine. Provides explanations on how techniques are used to diagnosis at the molecular level Explains how to use information technology to communicate and assess results in the lab Enhances our understanding of fundamental molecular biology and places techniques in context Places protocols into context with practical applications Includes extra chapters on respiratory viruses (Corona)

Molecular Diagnostics, Third Edition, focuses on the technologies and applications that professionals need to work in, develop, and manage a clinical diagnostic laboratory. Each chapter contains an expert introduction to each subject that is next to technical details and many applications for molecular genetic testing that can be found in comprehensive reference lists at the end of each chapter. Contents are divided into three parts, technologies, application of those technologies, and related issues. The first part is dedicated to the battery of the most widely used molecular pathology techniques. New chapters have been added, including the various new technologies involved in next-generation sequencing (mutation detection, gene expression, etc.), mass spectrometry, and protein-specific methodologies. All revised chapters have been completely updated, to include not only technology innovations, but also novel diagnostic applications. As with previous editions, each of the chapters in this section includes a brief description of the technique followed by examples from the area of expertise from the selected contributor. The second part of the book attempts to integrate previously analyzed technologies into the different aspects of molecular diagnostics, such as identification of genetically modified organisms, stem cells, pharmacogenomics, modern forensic science, molecular microbiology, and genetic diagnosis. Part three focuses on various everyday issues in a diagnostic laboratory, from genetic counseling and related ethical and psychological issues, to safety and quality management. Presents a comprehensive account of all new technologies and applications used in clinical diagnostic laboratories Explores a wide range of molecular-based tests that are available to assess DNA variation and changes in gene expression Offers clear translational presentations by the top molecular pathologists, clinical chemists, and molecular geneticists in the field

By integrating technology, supporting infrastructure and efficient application, the all-in-one guide presents molecular diagnostics as an essential component of modern, personalized clinical practice. It considers all important aspects, from the hardware and software needed, to recent improvements in blood- and non-blood-based biomarker tests. Chapters on ethical challenges and a look at current trends and the latest innovations are also included. Bridging the gap between industry and academia, this is a highly useful resource for practitioners as well as for developers of modern, DNA- and RNA-based molecular diagnostics.

This book offers an introduction to the newest, fastest-growing field in laboratory science. Explaining and clarifying the molecular techniques used in diagnostic testing, this text provides both entry-level and advanced information. It covers the principles of molecular biology along with genomes and nucleic acid alterations, techniques and instrumentation, and applications of molecular diagnostics. Written by leading experts, including Patrick Bossuyt, Angela Caliendo, Rossa W.K. Chiu, Kojo S.J. Elenitoba-Johnson, Andrea Ferreira-Gonzalez, Amy Groszbach, Sultan Habeebu, Doris Haverstick, Malek Kamoun, Anthony Killeen, Noriko Kusukawa, Y.M. Dennis Lo, Elaine Lyon, Gwendolyn McMillin, Christopher Price, James Versalovic, Cindy Vnencak-Jones, Victor Weedn, Peter Wilding, Thomas Williams, and Carl Wittwer, this book includes illustrations, tables, and a colorful design to make information easy to find and easy to use. A full-color, 4-page insert shows realistic images of the output for many molecular tests. Learning Objectives open each chapter with an overview of what you should achieve. Key Words are listed and defined at the beginning of each chapter, and are bolded in the text. Review Questions at the end of every chapter let you measure your comprehension. Advanced Concepts are included, but set apart from the rest of the text, for students who want a higher level of learning. Ethics boxes address ethical issues, allowing you to apply your knowledge to real-life scenarios. A glossary of all key words may be easily accessed in the back of the book.

Principles and Applications of Molecular Diagnostics serves as a comprehensive guide for clinical laboratory professionals applying molecular technology to clinical diagnosis. The first half of the book covers principles and analytical concepts in molecular diagnostics such as genomes and variants, nucleic acids isolation and amplification methods, and measurement techniques, circulating tumor cells, and plasma DNA; the second half presents clinical applications of molecular diagnostics in genetic disease, infectious disease, hematopoietic malignancies, solid tumors, prenatal diagnosis, pharmacogenetics, and identity testing. A thorough yet succinct guide to using molecular testing technology, Principles and Applications of Molecular Diagnostics is an essential resource for laboratory professionals, biologists, chemists, pharmaceutical and biotech researchers, and manufacturers of molecular diagnostics kits and instruments. Explains the principles and tools of molecular biology Describes standard and state-of-the-art molecular techniques for obtaining qualitative and quantitative results Provides a detailed description of current molecular applications used to solve diagnostics tasks

Notable practitioners describe how laboratory medicine is practiced today and illuminate how it will function tomorrow as the revolutionary advances afforded by molecular diagnostics become increasingly central to effective analysis. Proceeding from a discussion of elementary nucleic acid technology to a review of the more advanced techniques, the distinguished contributors lay the groundwork for a comprehensive understanding of their applications throughout clinical medicine. The result is a detailed description of those molecular technologies currently used in diagnostic laboratories, as well as those that seem particularly promising. Detailed discussions of specific clinical applications include those for cancer, hematological malignancies, cardiovascular disease, and neuromuscular, endocrine, and infectious diseases.