Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing, Second Edition assembles a group of experts to discuss the molecular basis and mechanisms of major human diseases and disease processes and how the molecular features of disease can be harnessed to develop practical molecular tests for disease detection, diagnosis and prognosis. The book explains how molecular tests are utilized in the treatment of patients in personalized medicine, highlights new technologies and approaches of applied molecular pathology, and discusses how this discovery-based research yields new and useful biomarkers and tests. As it is essential to stay up-to-date on new molecular diagnostics in this changing field, this book covers critically important areas in the practice of personalized medicine and reflects our understanding of the pathology, pathogenesis and pathophysiology of human disease.
- Includes new material on mass spectrometry for infectious diseases, microbiome, homology-directed repair for PARPi, whole genome sequencing for constitutional testing, and much more
- Provides insights on the value of the molecular test in comparison to traditional methods, which include speed, precision, sensitivity and clinical impacts for the patient
- Focuses on the menu of molecular diagnostic tests available in modern molecular pathology or clinical laboratories that can be applied to disease detection, diagnosis and classification in the clinical workup of a patient
- Explains how molecular tests are utilized to guide the treatment of patients in personalized medicine (guided therapies) and for the prognostication of disease
Auflage
Sprache
Verlagsort
Verlagsgruppe
Elsevier Science & Techn.
Illustrationen
145 illustrations (130 in full color)
Dateigröße
ISBN-13
978-0-12-822993-4 (9780128229934)
Schweitzer Klassifikation
Section 1 - Introduction to Molecular Testing1. Introduction to Molecular Testing in Human Disease2. The Polymerase Chain Reaction and Other Amplification Methodologies3. Whole-exome and Whole Genome Sequencing in the Molecular Diagnostic Laboratory4. Long-read Sequencing
Section 2 - Molecular Testing in Infectious Disease5. Molecular Testing for Human Immunodeficiency Virus6. Molecular Testing in Hepatitis Virus-related Disease7. Molecular Testing for Human Papilloma Viruses8. Molecular Testing for Parvoviruses9. Molecular Testing for Polyomaviruses10. Molecular Testing for Respiratory Viruses 11. Molecular Testing for Diseases Associated with Bacterial Infection12. Agents Associated with Sexually-transmitted Infections13. Molecular Methods for Healthcare-Acquired Infections14. Molecular Testing in Emerging Infectious Diseases15. Molecular and Serological Testing in the Setting of a Global Pandemic
Section 3 - Molecular Testing in Genetic Disease16. Non-invasive Prenatal Screening (NIPS) for Fetal Aneuploidies17. Molecular Testing in Cardiomyopathies18. Molecular Diagnostics for Coagulopathies19. Molecular Diagnosis of Cystic Fibrosis20. Molecular Testing in Hemochromatosis21. Molecular Testing for Spinal Muscular Atrophy22. Molecular Testing for Autism Spectrum Disorders
Section 4 - Molecular Testing in Oncology23. Molecular Testing in Breast Cancer24. Molecular Testing in Lung Cancer25. Molecular Testing in Colorectal Cancer26. Molecular Pathology and Testing in Melanocytic Tumors27. Molecular Testing for Glioblastoma 28. Molecular Testing in Pancreatic Cancer29. Molecular Testing in Gynecologic Cancer30. The Emerging Genetic Landscape in Renal Cell Carcinoma31. Molecular Testing in Thyroid Cancer32. Molecular Testing for Pediatric Cancers33. Molecular Pathogenesis of Soft Tissue and Bone Tumors 34. Molecular Pathology of Gastrointestinal Stromal Tumors35. Molecular Pathology of Liver Cancer
Section 5 - Molecular Testing in Hematopathology36. Molecular Testing in Myeloproliferative Neoplasms37. Molecular Testing in Myelodysplastic Syndromes 38. Molecular Testing in Acute Myeloid Leukemia39. Molecular Testing in the Assessment of Bone Marrow Transplant Engraftment
Section 6 - Molecular Testing in Personalized Medicine40. Pharmacogenomics in Cardiovascular Disease41. Personalized Medicine for Disorders of Hemostasis and Thrombosis42. Personalized Medicine in Cancer Treatment
Section 7 - The Future of Molecular Testing43. Imaging Mass Spectroscopy in Clinical Pathology 44. Artificial Intelligence and Deep Learning in Molecular Testing45. Nanotechnology in Molecular Diagnostics 46. Chip-based Nanotechnology in the Molecular Pathology Laboratory and Beyond47. Translational and Clinical Applications of the GeoMx® Digital Spatial Profiling Platform
