Molecular Diagnostics (eBook)

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