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Molecular Diagnostics


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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 Immunohistochemistry 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


"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 read...an 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

"...gives 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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