Molecular Diagnostics

Molecular Diagnostics : For the Clinical Laboratorian

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In 1994 I coedited a book, Molecular Pathology: Ap- efforts. It should be evident that molecular pathology and proaches to Diagnosing Human Disease in the Clinical diagnostics impact almost every conceivable subspecialty Laboratory, that coined the phrase "molecular pathology" in laboratory medicine and, particularly in the case of to refer to applications of molecular biology in the tradi- pharmacogenomics, have led to the development of new tional areas of laboratory medicine. That compilation of areas of investigation. clinical molecular techniques included 11 chapters and an What is less evident is the burden placed upon the epilogue on "New Directions for the Clinical Laboratory. " laboratorians directing these efforts. Issues regarding Chapter headings included: automation, neoplasia, heri- training, certification, continuing education, and re- table diseases, and infectious diseases. bursement (just to name a few) have demanded enormous Three years later, in 1997, Bill Coleman and Greg Tson- time and effort from professional organizations and g- galis edited Molecular Diagnostics: For the Clinical ernmental agencies.
In addition, because conventional Laboratorian, which contained 18 chapters and introduced approaches cannot always be applied to molecular di- the new areas of RT-PCR and In Situ PCR, and included nostics, unique solutions for quality assurance and quality a section on gene therapy. Now, ten years after the intro- control must be developed. These challenges have eng- duction of molecular pathology, we are looking at the dered committees, subcommittees, taskforces, and second edition of Bill Coleman and Greg Tsongalis' text.
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Product details

  • Hardback | 567 pages
  • 220.98 x 279.4 x 30.48mm | 1,859.72g
  • Humana Press Inc.
  • Totowa, NJ, United States
  • English
  • Revised
  • 2nd ed. 2005
  • XVIII, 567 p.
  • 1588293564
  • 9781588293565
  • 2,524,052

Review quote

"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." - Doody's Health Sciences Book Review Journal

"...the textbook of choice for anyone working in molecular diagnostics who wants to remain current with this rapidly changing field. -Clinical Laboratory International

From Reviews of the First Edition...

"...a very good introduction to the basic elements of molecular pathology...a clear, enjoyable excellent discussion of methods." -Clinical Chemistry

"...highly recommended...for those interested in clinical molecular diagnosis...will satisfy those who are more expert in certain areas of molecular diagnosis, but who have been unable to keep up with the wide range of recent advances in molecular diagnosis." -American Journal of Clinical Pathology

" a good theoretical background for those with little experience in this field. It is readable, comprehensive, and...up-to-date." -Journal of Clinical Pathology

"...well written, comprehensive...should bring even the reader with limited background knowledge up to speed on what is a rapidly progressing field." -Trends in Molecular Medicine

"...a timely and highly relevant book that will serve as a valuable resource to those practicing molecular diagnostics from the bench, as well as to basic and clinical scientists..." -Endocrine News
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Back cover copy

Taking advantage of the many major advances that have occurred since their groundbreaking first edition was published, William B. Coleman and Gregory J. Tsongalis have updated and expanded their highly praised tutorial guide to molecular diagnostic techniques to include not only improved traditional methods, but also totally new molecular technologies, 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 are complementary to molecular diagnostic methodologies, and also discuss genetic counseling and the ethical and social issues involved with nucleic acid testing.

Authoritative and state-of-the-art, Molecular Diagnostics: For the Clinical Laboratorian, 2nd Edition is the essential textbook of choice for anyone working in molecular diagnostics and who wants to remain current with this rapidly changing field.
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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 Mattocks, 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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