Molecular Diagnostics: For the Clinical Laboratorian / Edition 2

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This updated and expanded tutorial guide to molecular diagnostic techniques takes advantage of many new molecular technologies to include both improved traditional methods and totally new methods, some not yet in routine use. The authors offer cutting-edge molecular diagnostics for genetic disease, human cancers, infectious diseases, and identity testing, as well as new insights into the question of quality assurance in the molecular diagnostics laboratory. Additional chapters address other technologies found in the clinical laboratory that complementary to molecular diagnostic technologies and discuss genetic counseling and the ethical and social issues involved with nucleic acid testing.

The book contains black-and-white illustrations.

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Editorial Reviews

Doody's Review Service
Reviewer: Valerie L. Ng, PhD MD(Alameda County Medical Center/Highland Hospital)
Description: This slim yet weighty book is the second edition of a comprehensive review of molecular diagnostic testing in the clinical laboratory.
Purpose: The purpose of this edition was to update the previous edition, given the rapid pace of technological evolution in diagnostic testing in today's clinical laboratory. Given the pace at which this field of laboratory testing is progressing, the authors have succeeded admirably in providing an "all in one" text that is current.
Audience: This book would be useful to anyone interested in this area of laboratory testing. Obvious audiences include pathologists (in training or in practice), clinical laboratory scientists (CLSs, students or in practice), and any healthcare provider whose daily practice involves ordering these tests and interpreting the results in conjunction with their patient's symptoms.
Features: This book (and accompanying eBook on CD-ROM) is quite a tour de force on molecular diagnostic testing. I was quite delighted to read the first chapter discussing the historical perspective on clinical laboratory testing. Such a perspective dramatically highlights the rapid technological advances in all laboratory testing, let alone molecular diagnostics, which have occurred in the last century and especially in the last decade. The book is divided into nine additional sections. The first section discusses basic theory and technology underlying molecular testing — e.g., nucleic acid chemistry, extraction of nucleic acids, blotting techniques, amplification techniques, and bioinformatics. The next eight sections then discuss clinical molecular diagnostic testing related to different clinical situations (e.g., disease, genetic counseling, identity verification, etc.). An entire section is devoted to quality assurance in the molecular diagnostic laboratory — an area with many unresolved issues. One chapter devoted to laboratory-developed tests is quite useful, listing key references and international standards to assure that the laboratory is adhering to well recognized quality practices. In general, I found the book to be useful and only had two minor criticisms. The first is that the writing style tends to be traditional and didactic — not the most conducive to holding the attention of the reader. The second relates to a less than complete discussion of the clinical utility of such testing. More specifically, analytical sensitivities and specificities of individual tests are covered in great detail, whereas critical analyses of clinical sensitivities, specificities, and utility are often lacking or treated superficially. This, admittedly, is a very minor criticism given that information on the clinical utility of these tests is still accruing.
Assessment: This is a great book to have handy for ready reference in this rapidly evolving field. While the reader may not use this reference daily, there is no question that it will be needed for those occasions when such testing is ordered and a clinical consultation between the clinical laboratory and the healthcare provider is necessary.
Provides a detailed update on the latest advances in molecular diagnostics, proceeding from a discussion of elementary nucleic acid technology and a review of advanced techniques to descriptions of applications in clinical medicine. Discusses applications in cancer, hematological malignancies, cardiovascular disease, and neuromuscular, endocrine, and infectious diseases. Also discusses quality control issues, the ethical and legal implications of genetic testing, and new technologies such as chip-based assays. Of interest to clinical laboratory scientists, medical technologists, residents, fellows, and clinicians in all medical disciplines. Annotation c. by Book News, Inc., Portland, Or.

3 Stars from Doody
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Product Details

  • ISBN-13: 9781588293565
  • Publisher: Springer-Verlag New York, LLC
  • Publication date: 8/31/2005
  • Edition description: 2nd ed. 2005
  • Edition number: 2
  • Pages: 567
  • Sales rank: 1,276,894
  • Product dimensions: 6.90 (w) x 10.00 (h) x 1.40 (d)

Table of Contents

Part I. Introduction

An Historical Perspective on the Clinical Diagnostic Laboratory

Robert E. Moore

Part II. Basic Molecular Biology

An Overview of Nucleic Acid Chemistry, Structure, and Function: The Foundations of Molecular Biology

William B. Coleman

Extraction of Nucleic Acids

Paul N. Bogner and Anthony A. Killeen

Nucleic Acid Blotting Techniques: Theory and Practice

Terry Amiss and Sharon Collins Presnell

The Polymerase Chain Reaction

William B. Coleman and Gregory J. Tsongalis

Bioinformatics: Computer-Based Approaches to Genetic Analysis

Sharon L. Ricketts

Part III. Molecular Diagnostic Technologies

PCR-Based Methods for Mutation Detection

Ian M. Frayling, Emma Monk, and Rachel Butler

Alternative Methods for Amplified Nucleic Acid Testing

Deborah A. Payne and Laurie E. Sower

Electrophoretic Methods for Mutation Detection and DNA Sequencing

W. Edward Highsmith, Jr.

Single-Nucleotide Polymorphisms: Testing DNA Variation for Disease Association

Ulrich Broeckel and Martin J. Hessner

Microarray Approaches to Gene Expression Analysis

David Neil Hayes and Matthew Meyerson

Methods for Analysis of DNA Methylation

Alexander Dobrovic

Part IV. Other Clinical Diagnostic Technologies

Flow Cytometry

Joseph A. DiGiuseppe

Medical Cytogenetics

Martha B. Keagle

Fluorescence In Situ Hybridization: A Major Milestone in Luminous Cytogenetics

Suneel D. Mundle and Robert J. Koska


John Hunt, Larissa Davydova, Richard W. Cartun, and Maria Baiulescu

Laser Capture Microdissection

C. Robert Bagnell, Jr.

Part V. Quality Assurance in the Molecular Diagnostics Laboratory

Framework for Quality Assurance in Molecular Diagnostics

Marlene Sabbath-Solitare, Selwyn J. Baptist, and Teresita Cuyegkeng Redondo

Verification of Molecular Assays

Brent L. Seaton

Standards and Standardization of Molecular Diagnostics

John P. Jakupciak and Catherine D. O'Connell

Laboratory-Developed Tests in Molecular Diagnostics

Andrea Ferreira-Gonzalez and Carleton T. Garrett

Part VI. Applications of Molecular Diagnostics for Genetic Diseases

An Overview of Molecular Genetics

Elaine Weidenhammer and Gregory J. Tsongalis

Genetic Basis of Neurologic and Neuromuscular Diseases

Narasimhan Nagan, Christopher J. Klein, D. Brian Dawson, Myra J. Wick, and Stephen N. Thibodeau

Molecular Mechanisms of Endocrine Disorders

Amy Potter and John A. Phillips III

Molecular Pathogenesis of Cardiovascular Disease

Alan H. B. Wu

Molecular Diagnostics in Coagulation

Enrique Ballesteros

Cystic Fibrosis

Eugene H. Lewis III, Myra J. Lewis, Jean A. Amos, and Gregory J. Tsongalis

Prenatal Genotyping for Identification of Fetuses at Risk for Immune Cytopenic Disorders

Martin J. Hessner and Brian R. Curtis

Personalized Medicine, Karen McCullough

Part VII. Applications of Molecular Diagnostics for Human Cancers

Molecular Pathogenesis of Human Cancer

William B. Coleman and Gregory J. Tsongalis

Application of Molecular Diagnostics to Hereditary Nonpolyposis Colorectal Cancer

Ian M. Frayling, Lisa Happerfield, Christopher Matks, Kim Oakhill, and Mark J. Arends

Molecular Genetic Applications to the Diagnosis of Lymphoma

William N. Rezuke, Jr. and Gregory J. Tsongalis

Molecular Genetic Abnormalities in Acute and Chronic Leukemias

Pei Lin and L. Jeffrey Medeiros

Part VIII. Applications of Molecular Diagnostics for Infectious Diseases

Molecular Testing for Chlamydia trachomatis and Neisseria gonorrhoeae

Alexandra Valsamakis

Human Papillomavirus

Theresa M. Voytek and Gregory J. Tsongalis

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