Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing

Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing is organized around disease types (genetic disease, infectious disease, neoplastic disease, among others). In each section, the authors provide background on disease mechanisms and describe how laboratory testing is built on knowledge of these mechanisms. Sections are dedicated to general methodologies employed in testing (to convey the concepts reflected in the methods), and specific description of how these methods can be applied and are applied to specific diseases are described.

The book does not present molecular methods in isolation, but considers how other evidence (symptoms, radiology or other imaging, or other clinical tests) is used to guide the selection of molecular tests or how these other data are used in conjunction with molecular tests to make diagnoses (or otherwise contribute to clinical workup). In addition, final chapters look to the future (new technologies, new approaches) of applied molecular pathology and how discovery-based research will yield new and useful biomarkers and tests.

Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing contains exercises to test readers on their understanding of how molecular diagnostic tests are utilized and the value of the information that can be obtained in the context of the patient workup. Readers are directed to an ancillary website that contains supplementary materials in the form of exercises where decision trees can be employed to simulate actual clinical decisions.

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 patientExplains how molecular tests are utilized to guide the treatment of patients in personalized medicine (guided therapies) and for prognostication of diseaseFeatures an ancillary website with self-testing exercises where decision trees can be employed to simulate actual clinical decisionsHighlights new technologies and approaches of applied molecular pathology and how discovery-based research will yield new and useful biomarkers and tests

Section I: Introduction to Molecular Testing

Chapter 1. Basic Concepts in Molecular Pathology—Introduction to Molecular Testing in Human Disease

Chapter 2. Laboratory Approaches in Molecular Pathology—The Polymerase Chain Reaction

Chapter 3. Next-Generation Sequencing in the Clinical Laboratory

Chapter 4. Automation of the Molecular Diagnostic Laboratory

Section II: Molecular Testing in Infectious Disease

Chapter 5. Molecular Testing for Human Imunodeficiency Virus

Chapter 6. Molecular Testing in Hepatitis Virus Related Disease

Chapter 7. Molecular Testing for Human Papillomaviruses

Chapter 8. Molecular Testing for Herpes Viruses

Chapter 9. Molecular Testing for Parvoviruses

Chapter 10. Molecular Testing for Polyomaviruses

Chapter 11. Molecular Testing for Respiratory Viruses

Chapter 12. Molecular Testing for Diseases Associated with Bacterial Infections

Chapter 13. Agents Associated with Sexually Transmitted Infections

Chapter 14. Molecular Methods for Healthcare-Acquired Infections

Chapter 15. Molecular Testing in Emerging Infectious Diseases

Section III: Molecular Testing in Genetic Disease

Chapter 16. Noninvasive Prenatal Screening (NIPS) for Fetal Aneuploidies

Chapter 17. Molecular Testing in Inherited Cardiomyopathies

Chapter 18. Molecular Diagnostics for Coagulopathies

Chapter 19. Molecular Diagnosis of Cystic Fibrosis

Chapter 20. Molecular Testing in Hemochromatosis

Section IV: Molecular Testing in Oncology

Chapter 21. Molecular Testing in Breast Cancer

Chapter 22. Molecular Pathology of Prostate Cancer

Chapter 23. Molecular Testing in Lung Cancer

Chapter 24. Molecular Testing in Colorectal Cancer

Chapter 25. Molecular Pathology and Testing in Melanocytic Tumors

Chapter 26. Molecular Testing for Glioblastoma

Chapter 27. Molecular Testing in Pancreatic Cancer

Chapter 28. Molecular Testing in Gynecologic Cancer

Chapter 29. The Emerging Genetic Landscape in Renal Cell Carcinoma

Chapter 30. Molecular Testing in Thyroid Cancer

Chapter 31. Molecular Testing in Pediatric Cancers

Section V: Molecular Testing in Hematopathology

Chapter 32. Molecular Testing in Chronic Myelogenous Leukemia

Chapter 33. Molecular Testing in Acute Myeloid Leukemia

Chapter 34. Molecular Testing in Myeloproliferative Neoplasms

Chapter 35. Molecular Testing in the Assessment of Bone Marrow Transplant Engraftment

Section VI: Molecular Testing in Personalized Medicine

Chapter 36. Personalized Medicine in Cardiovascular Disease

Chapter 37. Personalized Medicine for Coagulopathies

Chapter 38. Personalized Medicine for Hepatitis C Virus

Chapter 39. Personalized Medicine in Cancer Treatment

Section VII: The Future of Molecular Testing

Chapter 40. Imaging Mass Spectrometry in Clinical Pathology

Chapter 41. Whole Genome Sequencing in the Molecular Pathology Laboratory