Table Of Contents:

• Endorsements
• Dedication
• List of Contributors
• Preface
• Section I: Introduction to Molecular Testing
  • Chapter 1. Basic Concepts in Molecular Pathology—Introduction to Molecular Testing in Human Disease
    • Abstract
    • Introduction
    • Mutations and Epimutations
    • 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
  • Chapter 2. Laboratory Approaches in Molecular Pathology—The Polymerase Chain Reaction
    • Abstract
    • Introduction
    • The Polymerase Chain Reaction
    • Components of the PCR
    • 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
    • References
  • Chapter 3. Next-Generation Sequencing in the Clinical Laboratory
    • Abstract
    • Introduction
    • DNA Sequencing Chemistry
    • Computer Science
    • Sequence Interpretation and Clinical Reporting
    • Conclusion
    • References
  • Chapter 4. Automation of the Molecular Diagnostic Laboratory
    • Abstract
    • Introduction
    • Automation of Nucleic Acid Extraction
    • Automation in Infectious Disease Molecular Diagnostics
    • Automation in Genetics and Molecular Oncology Diagnostics
    • Conclusions
    • References
• Section II: Molecular Testing in Infectious Disease
  • Chapter 5. Molecular Testing for Human Imunodeficiency Virus
    • Abstract
    • Introduction
    • Background on HIV Infection and AIDS
    • Molecular Tools in the Diagnosis and Follow-Up of HIV Infection
    • Special Emphasis on the Use of HIV Molecular Tools in Specific Clinical Situations
    • New Insights in Molecular HIV Testing
    • Conclusions
    • References
  • Chapter 6. Molecular Testing in Hepatitis Virus Related Disease
    • Abstract
    • Introduction
    • HAV and HAV RNA Detection Tests
    • HBV Infection
    • HCV and HCV RNA Detection Assays
    • HDV and HDV RNA Detection
    • HEV and Detection of HEV RNA
    • GB Virus C and Molecular Detection of GB Virus C Genome
    • References
  • Chapter 7. Molecular Testing for Human Papillomaviruses
    • Abstract
    • Introduction
    • Molecular Target
    • Molecular Technologies
    • Clinical Utility
    • Limitations
    • References
  • Chapter 8. Molecular Testing for Herpes Viruses
    • Abstract
    • Introduction
    • Herpes Simplex Virus
    • Varicella-Zoster Virus
    • Epstein–Barr Virus
    • Cytomegalovirus
    • Human Herpesvirus-6
    • Human Herpesvirus-7
    • Human Herpesvirus-8
    • Conclusions
    • Acknowledgments
    • References
  • Chapter 9. Molecular Testing for Parvoviruses
    • Abstract
    • The Family Parvoviridae
    • Parvovirus B19
    • Molecular Target
    • Molecular Technologies
    • Clinical Utility
    • References
  • Chapter 10. Molecular Testing for Polyomaviruses
    • Abstract
    • Introduction
    • Molecular Targets
    • Molecular Technologies
    • Clinical Utility
    • Limitations of Testing
    • References
  • Chapter 11. Molecular Testing for Respiratory Viruses
    • Abstract
    • Introduction
    • Molecular Targets
    • Clinical Utility of Molecular Diagnostics for Respiratory Virus Infection
    • Molecular Technologies and Limitations of Testing
    • Conclusions
    • References
  • Chapter 12. Molecular Testing for Diseases Associated with Bacterial Infections
    • Abstract
    • Introduction
    • Identification of Bacteria
    • Respiratory Infections
    • Gastrointestinal Infections
    • Bloodstream Infections
    • Group B Streptococcus Screening
    • Future Perspectives
    • References
  • Chapter 13. Agents Associated with Sexually Transmitted Infections
    • Abstract
    • Introduction
    • Syphilis
    • Gonorrhea
    • Genital Chlamydia Infection
    • Mycoplasma genitalium Infection
    • Trichomoniasis
    • Future Directions
    • Concluding Remarks
    • References
  • Chapter 14. Molecular Methods for Healthcare-Acquired Infections
    • Abstract
    • 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
  • Chapter 15. Molecular Testing in Emerging Infectious Diseases
    • Abstract
    • Background and Catalogue of Emerging Infectious Agents
    • Discovery of Emerging Infectious Agents Using Molecular Methods
    • Molecular Epidemiological Studies of Emerging Infectious Pathogens
    • Molecular Diagnostics of Emerging Infectious Pathogens
    • Limitations of Current Testing and Future Prospects
    • References
• Section III: Molecular Testing in Genetic Disease
  • Chapter 16. Noninvasive Prenatal Screening (NIPS) for Fetal Aneuploidies
    • Abstract
    • Introduction
    • The Molecular Target: Approaches Using Plasma Nucleic Acids
    • Molecular Technologies and Clinical Utility: Four Approaches by Four Commercial Laboratories
    • Limitations of Testing
    • Conclusions and Future Directions
    • References
  • Chapter 17. Molecular Testing in Inherited Cardiomyopathies
    • Abstract
    • Introduction
    • Major Forms of Cardiomyopathy
    • Molecular Target
    • Molecular Technologies
    • Clinical Utility
    • Limitations of Testing
    • References
  • Chapter 18. Molecular Diagnostics for Coagulopathies
    • Abstract
    • Introduction
    • Molecular Targets
    • Clinical Utility
    • Limitations of Testing
    • References
  • Chapter 19. Molecular Diagnosis of Cystic Fibrosis
    • Abstract
    • Introduction
    • Molecular Target
    • Molecular Technologies
    • Clinical Utility
    • Limitations of Testing
    • References
  • Chapter 20. Molecular Testing in Hemochromatosis
    • Abstract
    • Introduction
    • Background on Disease Mechanisms
    • Clinical Strategy Leading to Diagnosis of HC
    • Clinical Strategy for Molecular Testing in Individuals
    • Clinical Strategy for Molecular Testing in Family Screening
    • Molecular Biology Methods and Strategy
    • Perspectives
    • Conclusions
    • References
• Section IV: Molecular Testing in Oncology
  • Chapter 21. Molecular Testing in Breast Cancer
    • Abstract
    • Introduction
    • HER2 Testing by Fluorescence In Situ Hybridization
    • Breast Cancer Molecular Subtype
    • Prognostic Signatures and Prediction of Benefit from Chemotherapy
    • Conclusions
    • References
  • Chapter 22. Molecular Pathology of Prostate Cancer
    • Abstract
    • Introduction
    • Molecular Targets
    • Molecular Technologies
    • Clinical Utility
    • Limitations of Testing
    • Acknowledgments
    • Disclosures
    • References
  • Chapter 23. Molecular Testing in Lung Cancer
    • Abstract
    • Introduction
    • Molecular Targets
    • Molecular Technologies
    • Limitations of Testing
    • Clinical Utility
    • Acknowledgment
    • References
  • Chapter 24. Molecular Testing in Colorectal Cancer
    • Abstract
    • Introduction
    • Genetic Pathways to CRC
    • Hereditary Colon Cancer Syndromes
    • Biomarkers for Targeted Therapies in CRC
    • Molecular Technologies, Clinical Utility, and Limitations of Testing
    • References
  • Chapter 25. Molecular Pathology and Testing in Melanocytic Tumors
    • Abstract
    • Introduction
    • Melanoma-Associated Conditions and Syndromes
    • Molecular Analysis of Melanoma
    • Molecular Testing in Melanoma
    • Conclusions
    • References
  • Chapter 26. Molecular Testing for Glioblastoma
    • Abstract
    • Molecular Target
    • Molecular Technologies
    • Clinical Utility
    • Limitations of Testing
    • References
  • Chapter 27. Molecular Testing in Pancreatic Cancer
    • Abstract
    • Introduction
    • PDAC Biomarkers in Serum
    • PDAC Biomarkers in Pancreatic Juice
    • PDAC Biomarkers in Stool
    • PDAC Biomarkers in Urine
    • PDAC Biomarkers in Saliva
    • Summary
    • References
  • Chapter 28. Molecular Testing in Gynecologic Cancer
    • Abstract
    • Background
    • HPV and Uterine Cervical Cancer
    • Gestational Trophoblastic Disease
    • Endometrial Stromal Sarcoma
    • Adult Granulosa Cell Tumor
    • Lynch Syndrome Screening in Endometrial Cancer
    • Future Directions in Molecular Testing in Gynecologic Cancer
    • References
  • Chapter 29. The Emerging Genetic Landscape in Renal Cell Carcinoma
    • Abstract
    • Introduction
    • Molecular Targets and Technologies
    • Clinical Utility
    • Limitations of Testing
    • References
  • Chapter 30. Molecular Testing in Thyroid Cancer
    • Abstract
    • Introduction
    • Molecular Targets in Thyroid Cancer Diagnostics
    • Molecular Technologies
    • Clinical Utility
    • Limitations of Testing
    • References
  • Chapter 31. Molecular Testing in Pediatric Cancers
    • Abstract
    • Introduction
    • Retinoblastoma
    • Wilms Tumor
    • Neuroblastoma
    • References
• Section V: Molecular Testing in Hematopathology
  • Chapter 32. Molecular Testing in Chronic Myelogenous Leukemia
    • Abstract
    • Introduction
    • Molecular Biology of CML
    • Molecular Methods
    • Indications for Testing and Interpreting Results
    • Conclusions
    • References
  • Chapter 33. Molecular Testing in Acute Myeloid Leukemia
    • Abstract
    • Introduction
    • Diagnostic Workup of AML
    • Cytogenetic Abnormalities in AML
    • Gene Mutations in AML
    • Minimal Residual Disease Testing
    • New Horizons
    • References
  • Chapter 34. Molecular Testing in Myeloproliferative Neoplasms
    • Abstract
    • Introduction
    • Molecular Pathogenesis of MPNs
    • Molecular Testing in MPNs
    • Molecular Methods for MPN Testing
    • Future Directions
    • Conclusions
    • References
  • Chapter 35. Molecular Testing in the Assessment of Bone Marrow Transplant Engraftment
    • Abstract
    • Introduction
    • Molecular Target
    • Molecular Technologies
    • Clinical Utility
    • Limitations of Testing
    • References
• Section VI: Molecular Testing in Personalized Medicine
  • Chapter 36. Personalized Medicine in Cardiovascular Disease
    • Abstract
    • Introduction
    • Warfarin
    • Clopidogrel
    • Statins
    • Bucindolol
    • Conclusion and Future Perspective
    • References
  • Chapter 37. Personalized Medicine for Coagulopathies
    • Abstract
    • Introduction
    • Genomics of Coagulation Disorders
    • Pharmacogenomics of Antiplatelet and Anticoagulant Drugs
    • Genomics of Bleeding Disorders and Personalized Medicine in Hemophilia Care
    • References
  • Chapter 38. Personalized Medicine for Hepatitis C Virus
    • Abstract
    • Introduction
    • HCV Antiviral Treatments
    • When and in Whom to Initiate HCV Treatment
    • Initial Treatment of HCV Infection
    • Monitoring Patients Who Are Starting HCV Treatment, Are on Treatment, or Have Completed Treatment
    • Viral Resistance Variants
    • Role of Host Pharmacogenetics as Predictors of HCV Treatment Outcome
    • References
  • Chapter 39. Personalized Medicine in Cancer Treatment
    • Abstract
    • Introduction
    • Molecular Target: Fluoropyrimidines and DPYD
    • Molecular Target: Irinotecan and UGT1A1
    • Molecular Target: Rasburicase and G6PD Deficiency
    • Molecular Target: Tamoxifen and CYP2D6
    • Molecular Target: Thiopurines and Thiopurine Methyltransferase
    • Other Considerations for Personalized Medicine in Cancer Treatment
    • References
• Section VII: The Future of Molecular Testing
  • Chapter 40. Imaging Mass Spectrometry in Clinical Pathology
    • Abstract
    • Introduction
    • Imaging Mass Spectrometry
    • Applications to Anatomic Pathology
    • Computational Approaches in IMS
    • Conclusions
    • References
  • Chapter 41. Whole Genome Sequencing in the Molecular Pathology Laboratory
    • Abstract
    • Introduction
    • Molecular Technology
    • Does WGS Add Clinical Utility?
    • Application of WGS in the Future
    • Optimism Surrounding WGS
    • References
• Index