Molecular Diagnostics. for the Clinical Laboratorian

About this book

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.

Content Level » Professional/practitioner
Related subjects » Biomedical Sciences - Human Genetics - Microbiology - Pathology

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 Molecular Diagnosis for HIV-1 Angela M. Caliendo and Charles E. Hill Hepatitis C D. Robert Dufour Cytomegalovirus Angela M. Caliendo and Nell S. Lurain Part IX. Applications of Molecular Diagnostics for Identity-Based Testing HLA Typing Using Molecular Methods John L. Schmitz Molecular Analysis for Forensic Casework and Parentage Testing Tracey Dawson Cruz Molecular Assessment of Bone Marrow Transplant Engraftment Jessica K. Booker Use of DNA-Based Identity Testing for Specimen Identification Andrew Ricci Jr. and Gregory J. Tsongalis Part X. Issues for the Clinical Molecular Pathology Laboratory Genetic Counseling Considerations in Molecular Diagnosis Myra I. Roche Ethical, Social, and Legal Issues Related to Molecular Genetic Testing Jennifer L. Herbst and Jon F. Merz Index