Molecular Diagnostics: Techniques and Applications for the Clinical Laboratory

ISBN-13: 9780123694287 / Angielski / Twarda / 2009 / 736 str.

Grody, Wayne W.

Opis

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. Molecular Diagnostics 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.

• Serves as the definitivereference for molecular pathologists worldwide
• Covers a variety of molecular techniques including next generation sequencing, tumor somatic cell genotyping, infectious and genetic disease tecting, and pharmacogenetics
• Discusses in the detail issues concerning quality assurance, regulation, ethics, and future directions for the science

Spis treści

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

O autorze

Wayne W. Grody, M.D., Ph.D. is a Professor in the Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics at the UCLA School of Medicine. He is the director of the Diagnostic Molecular Pathology Laboratory within the UCLA Medical Center, and is also an attending physician in the Department of Pediatrics, specializing in the care of patients with or at risk for genetic disorders. He has been one of the primary developers of quality assurance and ethical guidelines for DNA-based genetic testing for a number of governmental and professional agencies including the FDA, AMA, CAP, ACMG, ASHG, NCCLS, CDC, NIH-DOE Human Genome Project (ELSI program), and PSRGN. He served as a member of the NIH-DOE Task Force on Genetic Testing, and was the working group chair for development of national guidelines for cystic fibrosis and factor V-Leiden mutation screening. Most recently, he was appointed chair of an Advisory Committee on Genomic Medicine for the entire VA healthcare system. He did his undergraduate work at Johns Hopkins University, received his M.D. and Ph.D. at Baylor College of Medicine, and completed residency and fellowship training at UCLA. He is double board-certified by the American Board of Pathology (Anatomic and Clinical Pathology, Molecular Genetic Pathology) and the American Board of Medical Genetics (Clinical Genetics, Molecular Genetics, and Biochemical Genetics).