Details

Autor(en) / Beteiligte

• Coleman, William B.,
• Tsongalis, Gregory J.,

Titel

Diagnostic Molecular Pathology : A Guide to Applied Molecular Testing

Auflage

Second edition

Ort / Verlag

London, England : Academic Press,

Erscheinungsjahr

[2024]

Link zum Volltext

• Elsevier Books AutoHoldings

Beschreibungen/Notizen

• Includes bibliographical references and index.
• Front Cover -- Diagnostic Molecular Pathology -- Copyright Page -- Dedication -- Contents -- List of contributors -- Preface -- 1 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 polymerase chain reaction -- DNA template -- DNA polymerase enzyme -- Oligodeoxynucleotide primers -- Polymerase chain reaction buffer -- Optimization of polymerase chain reaction amplification reactions -- Increasing polymerase chain reaction specificity and sensitivity -- Polymerase chain reaction contaminants -- Inhibitors of polymerase chain reaction -- Analysis of polymerase chain reaction products -- Variations of the typical polymerase chain reaction amplification reaction -- Hot-start and nested polymerase chain reaction -- Polymerase chain reaction analysis of RNA -- Real-time polymerase chain reaction -- Digital polymerase chain reaction -- References -- 3 Whole-exome and whole-genome sequencing in the molecular diagnostic laboratory -- Introduction -- Molecular technology in next-generation sequencing -- Distinguishing whole-genome sequencing from whole-exome sequencing -- Limitations of clinical genome sequencing -- Design and validation of a genome-scale test -- Bioinformatics consideration for clinical genome sequencing -- Interpreting variants in clinical genome sequencing.
• Variants of uncertain significance in clinical genome sequencing -- Secondary findings and the ethical, legal, and social implications of clinical genome sequencing -- Clinical utility of clinical genome sequencing -- Enhancing our understanding of the noncoding genome -- Whole-exome sequencing and whole-genome sequencing for oncology applications -- Applications of whole-genome sequencing -- Public health screening -- Personalized medicine and pharmacogenomics -- Optimism surrounding whole-genome sequencing -- References -- 4 Long-read sequencing for metagenomics in microbiology -- Introduction -- Nanopore sequencing -- PacBio single molecule, real-time -- Clinical applications -- Characteristics of metagenomics studies -- Potential added utility of long-read techniques -- Current applications and examples -- Limitations and complications -- Potential future applications of metagenomics -- Summary -- Disclosure -- References -- 5 Molecular testing for human immunodeficiency virus -- Introduction -- Background on human immunodeficiency virus infection and AIDS -- Overall epidemiology -- Life cycle of human immunodeficiency virus -- Transmission of human immunodeficiency virus -- Natural history of human immunodeficiency virus infection -- Human immunodeficiency virus evolution during treatment -- Molecular tools in the diagnosis and follow-up of human immunodeficiency virus infection -- Diagnosis of human immunodeficiency virus infection -- Follow-up of human immunodeficiency virus-infected subjects -- Summary of human immunodeficiency virus molecular testing in the course of human immunodeficiency virus infection -- Special emphasis on the use of human immunodeficiency virus molecular tools in specific clinical situations -- Screening of blood products -- Screening of organs and tissues from human donors.
• Screening human immunodeficiency virus-1 genome in semen in medically assisted procreation -- Screening of neonates born to human immunodeficiency virus-infected mothers -- Use of human immunodeficiency virus-1 molecular tools in low-income and middle-income countries -- New insights in molecular human immunodeficiency virus testing -- Improvement of the sensitivity of quantitative human immunodeficiency virus-1 viral load tests -- Development of new point-of-care molecular assays for human immunodeficiency virus testing -- Present and future of ART resistance determination -- Conclusion -- References -- 6 Molecular testing in hepatitis virus-related disease -- Introduction -- Hepatitis A virus and hepatitis A virus RNA detection -- Hepatitis B virus infection -- Hepatitis B virus DNA and RNA detection -- Hepatitis B virus genotyping -- Molecular testing for hepatitis B virus antiviral resistance -- Hepatitis C virus infection and hepatitis C virus RNA detection -- Hepatitis C virus genotyping -- Hepatitis D virus and hepatitis D virus RNA detection -- Hepatitis E virus and detection of hepatitis E virus RNA -- Hepatitis G virus and its genome -- Summary -- References -- 7 Molecular testing for human papillomaviruses -- Introduction -- Molecular target -- Pathophysiology of human papillomaviruses -- Human papillomaviruses 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 -- BD Onclarity HPV -- Clinical utility -- Limitations -- References -- 8 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 -- Other parvoviruses -- Human bocaparvovirus -- Human tetraparvovirus -- Human protoparvovirus -- References -- 9 Molecular testing for polyoma viruses -- Introduction -- Molecular targets -- Molecular technologies -- Clinical utility -- The BK virus -- The JC virus -- Other polyoma viruses -- Limitations of testing -- References -- 10 Molecular testing for respiratory viruses -- Introduction -- Viral pathogens targeted by molecular testing -- Influenza -- Paramyxoviruses -- Adenovirus -- Enteroviruses-including rhinoviruses 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 nucleic acid amplification test results -- Antiviral resistance testing -- Conclusions -- Acknowledgments -- References -- 11 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 -- Acknowledgments -- References -- 12 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 sexually transmitted infections -- Multiplex approach of sexually transmitted infection diagnosis using molecular tools -- Point-of-care diagnostics for sexually transmitted infections -- Molecular tools dedicated to antimicrobial susceptibility -- Concluding remarks -- References -- 13 Molecular methods for healthcare-acquired infections -- Introduction.
• Methicillin-resistant Staphylococcus aureus molecular diagnostic testing and clinical utility.
• Description based on print version record.