By George Patrinos, Wilhelm Ansorge and Phillip B. Danielson
Molecular Diagnostics 3rd Edition PDF 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
Table of Contents
List of Contributors
Preface, Third Edition
Chapter 1. Molecular Diagnostics: Past, Present, and Future
1.1. Introduction
1.2. History of Molecular Diagnostics: Inventing the Wheel
1.3. The Post-Polymerase Chain Reaction Revolution
1.4. Molecular Diagnostics in the Post-Genomic Era
1.5. Future Perspectives: What Lies Beyond
1.6. Conclusions
Chapter 2. Describing DNA Variants (Mutation Nomenclature)
2.1. Introduction
2.2. History
2.3. Authorization
2.4. Definitions
2.5. Variant Descriptions
2.6. Mutalyzer
2.7. Concluding Remarks
Chapter 3. Low- and Medium-Throughput Variant Detection Methods: A Historical Perspective
3.1. Introduction
3.2. Genetic Screening Methods
3.3. Genetic Scanning Methods
3.4. Conclusions
Chapter 4. Quantitative Polymerase Chain Reaction
4.1. History of the Polymerase Chain Reaction
4.2. Principle of Real-Time Polymerase Chain Reaction
Chapter 13. Application of Proteomics to Medical Diagnostics
13.1. Introduction
13.2. Clinical Impact and “Proteomics” Potential
13.3. Strategies for Mass Spectrometry–Based Proteomics: Discovery and Verification
13.4. Bioinformatics
13.5. Examples of Discovery and Verification Proteomics
13.6. Examples of Protein-Based Diagnostics Assays
13.7. Challenges in Clinical Proteomics
13.8. Future Advances and Concluding Remarks
Chapter 14. Molecular Cytogenetics in Molecular Diagnostics
14.1. Introduction
14.2. From Conventional to Molecular Cytogenetics
14.3. Fluorescence In Situ Hybridization
14.4. Basic Technical Elements and Materials
14.5. Types of Fluorescence In Situ Hybridization Probes and Fluorescence In Situ Hybridization Approaches for Metaphase and Interphase Fluorescence In situ Hybridization
14.6. Multicolor Fluorescence In Situ Hybridization Screening Assays
