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Format: 1 online resource (583 pages) : , illustrations (some color), charts

Uniform Title: Diagnostic molecular pathology (Coleman)

Note: Front Cover -- Diagnostic Molecular Pathology -- Copyright Page -- Endorsements -- Dedication -- Contents -- List of Contributors -- Preface -- I. Introduction to Molecular Testing -- 1 Basic Concepts in Molecular Pathology-Introduction to Molecular Testing in Human Disease -- Introduction -- Mutations and Epimutations -- Genetic Alterations -- Epigenetic Alterations -- Sources of Nucleic Acids for Molecular Testing -- Classification of Disease -- Molecular Classification of Disease -- Molecular Testing and Companion Diagnostics -- Molecular Detection of Disease -- Molecular Diagnosis of Disease -- Molecular Prognostication of Disease -- Perspectives -- References -- 2 Laboratory Approaches in Molecular Pathology-The Polymerase Chain Reaction -- Introduction -- The Polymerase Chain Reaction -- Components of the PCR -- DNA Template -- DNA Polymerase Enzyme -- Oligodeoxynucleotide Primers -- PCR Reaction Buffer -- Optimization of PCR Amplification Reactions -- Increasing PCR Specificity and Sensitivity -- PCR Contaminants -- Inhibitors of PCR -- Analysis of PCR Products -- Variations of the Typical PCR Amplification Reaction -- Hot-start and Nested PCR -- PCR Analysis of RNA -- Real-Time PCR -- References -- 3 Next-Generation Sequencing in the Clinical Laboratory -- Introduction -- Why Perform Clinical Next-Generation Sequencing? -- How Are Assays Performed? -- DNA Sequencing Chemistry -- Illumina Sequencing -- Ion Torrent Sequencing -- SMRT Sequencing -- Advantages and Disadvantages of Sequencing Technologies -- Computer Science -- Base Calling -- Sequence Alignment -- Variant Calling -- Sequence Interpretation and Clinical Reporting -- Conclusion -- References -- 4 Automation of the Molecular Diagnostic Laboratory -- Introduction -- Automation of Nucleic Acid Extraction -- Automation in Infectious Disease Molecular Diagnostics. , Automation in Genetics and Molecular Oncology Diagnostics -- Real-Time Quantitative PCR -- Digital Droplet PCR -- Capillary Electrophoresis -- Chromosomal Microarray Analysis -- Next-Generation Sequencing -- Conclusions -- References -- II. Molecular Testing in Infectious Disease -- 5 Molecular Testing for Human Imunodeficiency Virus -- Introduction -- Background on HIV Infection and AIDS -- Overall Epidemiology -- Life Cycle of HIV -- Transmission of HIV -- Natural History of HIV Infection -- HIV Evolution During Treatment -- Molecular Tools in the Diagnosis and Follow-Up of HIV Infection -- Diagnosis of HIV Infection -- Follow-Up of HIV-Infected Subjects -- Summary of HIV Molecular Testing in the Course of HIV Infection -- Special Emphasis on the Use of HIV Molecular Tools in Specific Clinical Situations -- Screening of Blood Products -- Screening of Organs and Tissues from Human Donors -- Screening HIV-1 Genome in Semen in Medically-Assisted Procreation -- Screening of Neonates Born to HIV-Infected Mothers -- Use of HIV-1 Molecular Tools in Low-Income and Middle-Income Countries -- New Insights in Molecular HIV Testing -- Improvement of the Sensitivity of Quantitative HIV-1 Viral Load Tests -- Development of New POC Molecular Assays for HIV Testing -- Present and Future of ART Resistance Determination -- Conclusions -- References -- 6 Molecular Testing in Hepatitis Virus Related Disease -- Introduction -- HAV and HAV RNA Detection Tests -- HBV Infection -- HBV DNA Detection Assays -- HBV Genotyping -- Molecular Testing for HBV Antiviral Resistance -- HCV and HCV RNA Detection Assays -- HCV Genotyping -- HDV and HDV RNA Detection -- HEV and Detection of HEV RNA -- GB Virus C and Molecular Detection of GB Virus C Genome -- References -- 7 Molecular Testing for Human Papillomaviruses -- Introduction -- Molecular Target -- Pathophysiology of HPVs. , HPVs and Cervical Cancer -- Molecular Technologies -- Digene Hybrid Capture 2 -- Cervista HPV HR and Cervista HPV 16/18 -- Aptima HPV and Aptima HPV 16 18/45 -- Roche cobas HPV Test -- Clinical Utility -- Limitations -- References -- 8 Molecular Testing for Herpes Viruses -- Introduction -- Herpes Simplex Virus -- Varicella-Zoster Virus -- Epstein-Barr Virus -- Cytomegalovirus -- Human Herpesvirus-6 -- Human Herpesvirus-7 -- Human Herpesvirus-8 -- Conclusions -- Acknowledgments -- References -- 9 Molecular Testing for Parvoviruses -- The Family Parvoviridae -- Parvovirus B19 -- The Virus -- Transmission -- Infection-Early Events -- Infection-Late Events -- Virus Persistence -- Fetal Infection -- Molecular Target -- Target and Samples -- B19V Genotypes -- Molecular Technologies -- Technical Developments -- qPCR Assay Design -- qPCR Assay Validation -- In Situ Hybridization Techniques -- Immunological Techniques -- Clinical Utility -- Diagnostic Approach -- qPCR Result Interpretation and Relevance -- Limitations of Testing -- References -- 10 Molecular Testing for Polyomaviruses -- Introduction -- Molecular Targets -- Molecular Technologies -- Clinical Utility -- The BK Virus -- The JC Virus -- Other Polyomaviruses -- Limitations of Testing -- References -- 11 Molecular Testing for Respiratory Viruses -- Introduction -- Molecular Targets -- Influenza -- Paramyxoviruses -- Adenovirus -- EVs-Including RVs and Human Parechoviruses -- Coronaviruses -- Clinical Utility of Molecular Diagnostics for Respiratory Virus Infection -- Upper Respiratory Tract Infections -- The Common Cold -- Influenza-Like Illness -- Lower Respiratory Tract Infections -- Croup -- Bronchiolitis -- Pneumonia -- Molecular Technologies and Limitations of Testing -- Specimen Collection -- Timing of Disease/Virus Shedding -- Seasonality -- Interpretation of NAAT Results. , Antiviral Resistance Testing -- Conclusions -- References -- 12 Molecular Testing for Diseases Associated with Bacterial Infections -- Introduction -- Identification of Bacteria -- Probes -- Molecular Target(s) and Technologies -- Clinical Utility -- Limitations of Testing -- Sequencing -- Molecular Target(s) and Technologies -- Clinical Utility -- Limitations of Testing -- Matrix-Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometry -- Molecular Target(s) and Technologies -- Clinical Utility -- Limitations of Testing -- Respiratory Infections -- Molecular Target(s) and Technologies -- Clinical Utility -- Limitations of Testing -- Gastrointestinal Infections -- Molecular Target(s) and Technologies -- Clinical Utility -- Limitations of Testing -- Bloodstream Infections -- Peptide Nucleic Acid Florescence In Situ Hybridization -- Molecular Target(s) and Technologies -- Clinical Utility -- Limitations of Testing -- Multiplex Assays from Positive Blood Cultures -- Molecular Target(s) and Technologies -- Clinical Utility -- Limitations of Testing -- Group B Streptococcus Screening -- Molecular Target(s) and Technologies -- Clinical Utility -- Limitations of Testing -- Future Perspectives -- References -- 13 Agents Associated with Sexually Transmitted Infections -- Introduction -- Syphilis -- Overview of the Disease and its Epidemiology -- Current Diagnosis of Syphilis -- Place of Syphilis Molecular Testing -- Gonorrhea -- Overview of the Disease and its Epidemiology -- Current Diagnosis of Gonorrhea -- Nucleic Acid Tests Specific for Gonococcal Infection -- Genital Chlamydia Infection -- Overview of the Disease and its Epidemiology -- Nonmolecular Methods of Laboratory Diagnosis -- Molecular Methods of Laboratory Diagnosis -- Mycoplasma genitalium Infection -- Overview of the Disease and its Epidemiology -- Current Diagnosis. , Trichomoniasis -- Overview of the Disease and its Epidemiology -- Diagnosis Based on Conventional Techniques -- Diagnosis Based on Molecular Testing -- Future Directions -- Vaginal Microbiome and STIs -- Multiplex Approach of STI Diagnosis Using Molecular Tools -- POC Diagnostics for STIs -- Molecular Tools Dedicated to Antimicrobial Susceptibility -- Concluding Remarks -- References -- 14 Molecular Methods for Healthcare-Acquired Infections -- Introduction -- MRSA Molecular Diagnostic Testing and Clinical Utility -- MRSA Molecular Typing and Clinical Utility -- MRSA Molecular Screening/Surveillance -- Clostridium difficile -- C. difficile Molecular Testing and Clinical Utility -- C. difficile Molecular Typing and Clinical Utility -- References -- 15 Molecular Testing in Emerging Infectious Diseases -- Background and Catalogue of Emerging Infectious Agents -- Discovery of Emerging Infectious Agents Using Molecular Methods -- Molecular Epidemiological Studies of Emerging Infectious Pathogens -- Influenza A -- Human Immunodeficiency Virus 1 -- Hepatitis C Virus -- Molecular Diagnostics of Emerging Infectious Pathogens -- Limitations of Current Testing and Future Prospects -- References -- III. Molecular Testing in Genetic Disease -- 16 Noninvasive Prenatal Screening (NIPS) for Fetal Aneuploidies -- Introduction -- The Molecular Target: Approaches Using Plasma Nucleic Acids -- Molecular Technologies and Clinical Utility: Four Approaches by Four Commercial Laboratories -- Sequenom -- Illumina (Formerly Verinata Health, Inc.) -- Ariosa Diagnostics (Previously Aria Diagnostics) -- Natera -- Limitations of Testing -- Conclusions and Future Directions -- References -- 17 Molecular Testing in Inherited Cardiomyopathies -- Introduction -- Major Forms of Cardiomyopathy -- Hypertrophic Cardiomyopathy -- Restrictive Cardiomyopathy -- Dilated Cardiomyopathy. , Arrhythmogenic Right Ventricular Cardiomyopathy.

Additional Edition: ISBN 0-12-800886-5

Additional Edition: ISBN 0-12-801157-2

Language: English