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Molecular Diagnostics

Techniques and Applications for the Clinical Laboratory

  • 1st Edition - November 6, 2009
  • Latest edition
  • Editors: Wayne W. Grody, Robert M. Nakamura, Frederick L. Kiechle, Charles Strom
  • Language: English

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… Read more

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Description

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.

Key features

  • 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

Readership

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

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

Product details

  • Edition: 1
  • Latest edition
  • Published: November 6, 2009
  • Language: English

About the editors

WG

Wayne W. Grody

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).
Affiliations and expertise
Professor, Divisions of Medical Genetics and Molecular Diagnostics, Departments of Path. and Lab. Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, UCLA Institute for Society and Genetics, Director, Molecular Diagnostic Laboratories and Clinical Genomics Center, UCLA Medical Center, Los Angeles, CA, USA

RN

Robert M. Nakamura

Affiliations and expertise
Scripps Clinic, La Jolla, CA, U.S.A.

FK

Frederick L. Kiechle

Affiliations and expertise
Medical Director, Clinical Pathology Department of Pathology Pathology Consultants of South Broward Memorial Healthcare System

CS

Charles Strom

Affiliations and expertise
Medical Director, Genetic Testing Center Nichols Institute, Quest Diagnostics, San Juan Capistrano, CA, U.S.A.

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