Includes bibliographical references and index.

Machine generated contents note: I. Introduction To Molecular Testing -- 1. Basic Concepts in Molecular Pathology---Introduction to Molecular Testing in Human Disease / G.J. Tsongalis -- 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 -- 2. Laboratory Approaches in Molecular Pathology---The Polymerase Chain Reaction / G.J. Tsongalis -- Introduction -- 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 -- 3. Next-Generation Sequencing in the Clinical Laboratory / N.M. Patel -- Introduction -- DNA Sequencing Chemistry -- Computer Science -- Sequence Interpretation and Clinical Reporting -- Conclusion -- References -- 4. Automation of the Molecular Diagnostic Laboratory / G.J. Tsongalis -- Introduction -- Automation of Nucleic Acid Extraction -- Automation in Infectious Disease Molecular Diagnostics -- Automation in Genetics and Molecular Oncology Diagnostics -- Conclusions -- References -- II. Molecular Testing In Infectious Disease -- 5. Molecular Testing for Human Imunodeficiency Virus / B. Pozzetto -- 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 -- 6. Molecular Testing in Hepatitis Virus Related Disease / T.I. Michalak -- 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 -- 7. Molecular Testing for Human Papillomaviruses / K.M. Bennett -- Introduction -- Molecular Target -- Molecular Technologies -- Clinical Utility -- Limitations -- References -- 8. Molecular Testing for Herpes Viruses / B.A. Pinsky -- 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 / G. Gallinella -- Family Parvoviridae -- Parvovirus B19 -- Molecular Target -- Molecular Technologies -- Clinical Utility -- References -- 10. Molecular Testing for Polyomaviruses / B. Yen-Lieberman -- Introduction -- Molecular Targets -- Molecular Technologies -- Clinical Utility -- Limitations of Testing -- References -- 11. Molecular Testing for Respiratory Viruses / K.A. Stellrecht -- Introduction -- Molecular Targets -- Clinical Utility of Molecular Diagnostics for Respiratory Virus Infection -- Molecular Technologies and Limitations of Testing -- Conclusions -- References -- 12. Molecular Testing for Diseases Associated with Bacterial Infections / M.B. Miller -- Introduction -- Identification of Bacteria -- Respiratory Infections -- Gastrointestinal Infections -- Bloodstream Infections -- Group B Streptococcus Screening -- Future Perspectives -- References -- 13. Agents Associated with Sexually Transmitted Infections / B. Pozzetto -- Introduction -- Syphilis -- Gonorrhea -- Genital Chlamydia Infection -- Mycoplasma Genitalium Infection -- Trichomoniasis -- Future Directions -- Concluding Remarks -- References -- 14. Molecular Methods for Healthcare-Acquired Infections / R.C. Arcenas -- 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 / D.H. Walker -- 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 -- III. Molecular Testing In Genetic Disease -- 16. Noninvasive Prenatal Screening (NIPS) for Fetal Aneuploidies / M.J. Wick -- Introduction -- 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 -- 17. Molecular Testing in Inherited Cardiomyopathies / B.H. Funke -- Introduction -- Major Forms of Cardiomyopathy -- Molecular Target -- Molecular Technologies -- Clinical Utility -- Limitations of Testing -- References -- 18. Molecular Diagnostics for Coagulopathies / P.L. Perrotta -- Introduction -- Molecular Targets -- Clinical Utility -- Limitations of Testing -- References -- 19. Molecular Diagnosis of Cystic Fibrosis / D.H. Best -- Introduction -- Molecular Target -- Molecular Technologies -- Clinical Utility -- Limitations of Testing -- References -- 20. Molecular Testing in Hemochromatosis / A.M. Jouanolle -- 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 -- IV. MOLECULAR TESTING IN ONCOLOGY -- 21. Molecular Testing in Breast Cancer / K.H. Allison -- Introduction -- HER2 Testing by Fluorescence In Situ Hybridization -- Breast Cancer Molecular Subtype -- Prognostic Signatures and Prediction of Benefit from Chemotherapy -- Conclusions -- References -- 22. Molecular Pathology of Prostate Cancer / S.A. Tomlins -- Introduction -- Molecular Targets -- Molecular Technologies -- Clinical Utility -- Limitations of Testing -- Acknowledgments -- Disclosures -- References -- 23. Molecular Testing in Lung Cancer / M.S. Tsao -- Introduction -- Molecular Targets -- Molecular Technologies -- Limitations of Testing -- Clinical Utility -- Acknowledgment -- References -- 24. Molecular Testing in Colorectal Cancer / Chanjuan Shi -- Introduction -- Genetic Pathways to CRC -- Hereditary Colon Cancer Syndromes -- Biomarkers for Targeted Therapies in CRC -- Molecular Technologies, Clinical Utility, and Limitations of Testing -- References -- 25. Molecular Pathology and Testing in Melanocytic Tumors / G.J. Tsongalis -- Introduction -- Melanoma-Associated Conditions and Syndromes -- Molecular Analysis of Melanoma -- Molecular Testing in Melanoma -- Conclusions -- References -- 26. Molecular Testing for Glioblastoma / D.G. Trembath -- Molecular Target -- Molecular Technologies -- Clinical Utility -- Limitations of Testing -- References -- 27. Molecular Testing in Pancreatic Cancer / M. Raimondo -- Introduction -- PDAC Biomarkers in Serum -- PDAC Biomarkers in Pancreatic Juice -- PDAC Biomarkers in Stool -- PDAC Biomarkers in Urine -- PDAC Biomarkers in Saliva -- Summary -- References -- 28. Molecular Testing in Gynecologic Cancer / S.E. Kerr -- 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 -- 29. Emerging Genetic Landscape in Renal Cell Carcinoma / H.A. Drabkin -- Introduction -- Molecular Targets and Technologies -- Clinical Utility -- Limitations of Testing -- References -- 30. Molecular Testing in Thyroid Cancer / Y.E. Nikiforov -- Introduction -- Molecular Targets in Thyroid Cancer Diagnostics -- Molecular Technologies -- Clinical Utility -- Limitations of Testing -- References -- 31. Molecular Testing in Pediatric Cancers / K.W. Rao -- Introduction -- Retinoblastoma -- Wilms Tumor -- Neuroblastoma -- References -- V. Molecular Testing In Hematopathology -- 32. Molecular Testing in Chronic Myelogenous Leukemia / B.L. Betz -- Introduction -- Molecular Biology of CML -- Molecular Methods -- Indications for Testing and Interpreting Results -- Conclusions -- References -- 33. Molecular Testing in Acute Myeloid Leukemia / B.L. Betz -- Introduction -- Diagnostic Workup of AML -- Cytogenetic Abnormalities in AML -- Gene Mutations in AML -- Minimal Residual Disease Testing -- New Horizons -- References -- 34. Molecular Testing in Myeloproliferative Neoplasms / B.L. Betz -- Introduction -- Molecular Pathogenesis of MPNs -- Molecular Testing in MPNs -- Molecular Methods for MPN Testing -- Future Directions -- Conclusions -- References -- 35. Molecular Testing in the Assessment of Bone Marrow Transplant Engraftment / J.K. Booker -- Introduction -- Molecular Target -- Molecular Technologies -- Clinical Utility -- Limitations of Testing -- References --

Contents note continued: VI. Molecular Testing In Personalized Medicine -- 36. Personalized Medicine in Cardiovascular Disease / M. Pirmohamed -- Introduction -- Warfarin -- Clopidogrel -- Statins -- Bucindolol -- Conclusion and Future Perspective -- References -- 37. Personalized Medicine for Coagulopathies / O. Iqbal -- Introduction -- Genomics of Coagulation Disorders -- Pharmacogenomics of Antiplatelet and Anticoagulant Drugs -- Genomics of Bleeding Disorders and Personalized Medicine in Hemophilia Care -- References -- 38. Personalized Medicine for Hepatitis C Virus / A. Ferreira-Gonzalez -- 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 -- 39. Personalized Medicine in Cancer Treatment / S.A. Scott -- 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 -- VII. Future Of Molecular Testing -- 40. Imaging Mass Spectrometry in Clinical Pathology / R.M. Caprioli -- Introduction -- Imaging Mass Spectrometry -- Applications to Anatomic Pathology -- Computational Approaches in IMS -- Conclusions -- References -- 41. Whole Genome Sequencing in the Molecular Pathology Laboratory / J.S. Berg -- Introduction -- Molecular Technology -- Does WGS Add Clinical Utility? -- Application of WGS in the Future -- Optimism Surrounding WGS -- References.