Molecular Diagnostics: Techniques and Applications for the Clinical Laboratory

Advances in genomic and proteomic profiling of disease have transformed the field of molecular diagnostics, thus leading the way for a major revolution in clinical practice. While the range of tests for disease detection and staging is rapidly expanding, many physicians lack the knowledge required to determine which tests to order and how to interpret results. This handbook provides a complete guide to the use and interpretation of molecular testing in the clinical arena. No other available resource offers this emphasis, comprehensive scope, and practical utility in the clinical setting. By Wayne W. Grody, UCLA School of Medicine, Los Angeles, CA, USA Professor Divisions of Medical Genetics and Molecular Pathology Departments of Path. & Lab. Medicine, Pediatrics, and Human Genetics UCLA School of Medicine Los Angeles, CA 90095-1732 ; Robert M. Nakamura, Scripps Clinic, La Jolla, CA, U.S.A.; Frederick L. Kiechle, Medical Director, Clinical Pathology Department of Pathology Pathology Consultants of South Broward Memorial Healthcare System and Charles Strom, Medical Director, Genetic Testing Center Nichols Institute, Quest Diagnostics, San Juan Capistrano, CA, U.S.A. Table of Contents: I. Introduction and Methodology Quantivative PCR: an introduction Signal Amplification Methods in Molecular Diagnostics The Lab-on-a-Chip Approach for Molecular Diagnostics Nucleic Extraction and Amplification General Procedures II. Quality Assurance, Regulatory, and Ethical Issues Billing and Reimbursement for Molecular Diagnostics Molecular Pathology and Infectious Diseases Ethical Considerations in Molecular Diagnostics Quality Control, Assurance, Identification and Standards III. Genetic Disease Molecular Testing for Cystic Fibrosis and CFTR-Related Conditions Carrier Testing for Neurogenetic Diseases Hemochromatosis Standards and Recommendations for Molecular Diagnostic Testing for Huntington Disease, the Autosomal Dominant Spinocerebellar Ataxias, and Friedreich Ataxia IV. Cancer The Role of Micro-RNAs in Cancer Molecular Diagnostics in the Evaluation of Cancer: Modern Concepts and Overview Gene Expression Analysis for Tumor Profiling GEA for TP Molecular Diagnostics of Hematopoetic Malignancies V. Infectious Diseases Viruses Hepatic B and C Viruses Molecular Diagnosis of Cytomegalovirus Molecular Detection of Multiple Respiratory Viruses Bacteria Molecular Methods for Identification and Characterization of Acinetobacter species Molecular Detection and Surveillance of Healthcare-Associated Infections Molecular Detection Of Group B Streptococcus Role of Molecular Techniques in the Epidemiologic Investigation Of Hospital-Acquired Infections Human Papilloma Virus and its Role in Cervical Carcinoma VI. Specialized Applications of Molecular Testing Molecular HLA Typing Methods Used in Clinical Laboratories Identification through DNA analysis in criminal and family relatedness investigations. VII. Pharmacogenetics Overview of Pharmacogenomics and Applications for the Modern Clinical Laboratory UDP-Glucuronosyltransferase 1A1 and the Glucuronidation in Oncology Applications and Hyperbilirubinemia Pharmacogenetics of P-450 Enzymes Pharmacogenomics of Thiopurine Methyl Transferase (TPMT): Importance in Monitoring of Mercaptopurine/Azathioprine Therapy