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.

Molecular Diagnostics covers current molecular biological techniques used to identify the underlying molecular defects in inherited disease. Although an increasing number of laboratories, both academic and private are moving in that direction, there are only a few books in the existing literature, and they deal only partly with diagnosis at the molecular level. Each chapter includes the principle and a brief description of the technique, followed by exmples from the authors' own epertise. Contributors are well-known experts in their field, and derive from a variety of disciplines, to ensure breadth and depth of coverage.
* Examines widely used molecular biology techniques to screen for genetic defects causing inherited disorders
* Includes state-of-the-art techniques for the detection of the underlying genetic heterogeneity leading to inherited disorders
* Identification of genetically modified organisms (GMO's)
* Forensic analysis and every-day issues in a diagnostic laboratory
* Discusses ethics, genetic counselling and quality management