Molecular Diagnostics

Techniques and Applications for the Clinical Laboratory

Edited by

  • Wayne 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 Professor Division of Medical Genetics and Molecular Pathology; Director, Diagnostic Molecular Pathology Laboratory
  • Robert Nakamura, Scripps Clinic, La Jolla, CA, U.S.A.
  • Frederick Kiechle, Medical Director, Clinical Pathology Department of Pathology Pathology Consultants of South Broward Memorial Healthcare System
  • Charles Strom, Medical Director, Genetic Testing Center Nichols Institute, Quest Diagnostics, San Juan Capistrano, CA, U.S.A.

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.
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Pathologists, laboratory technicians, geneticists, physicians, medical students, and other health care professionals involved in molecular testing.


Book information

  • Published: December 2009
  • ISBN: 978-0-12-369428-7

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
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   
Hepatic B and C Viruses
Molecular Diagnosis of Cytomegalovirus
Molecular Detection of Multiple Respiratory Viruses

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