This updated and expanded tutorial guide to molecular diagnostic techniques takes advantage of many new molecular technologies to include both improved traditional methods and totally new methods, some not yet in routine use. The authors offer cutting-edge molecular diagnostics for genetic disease, human cancers, infectious diseases, and identity testing, as well as new insights into the question of quality assurance in the molecular diagnostics laboratory. Additional chapters address other technologies found in the clinical laboratory that complementary to molecular diagnostic technologies and discuss genetic counseling and the ethical and social issues involved with nucleic acid testing.

Taking advantage of the many major advances that have occurred since their groundbreaking first edition was published, William B. Coleman and Gregory J. Tsongalis have updated and expanded their highly praised tutorial guide to molecular diagnostic techniques to include not only improved traditional methods, but also totally new molecular technologies, some not yet in routine use. The authors offer cutting-edge molecular diagnostics for genetic disease, human cancers, infectious diseases, and identity testing, as well as new insights into the question of quality assurance in the molecular diagnostics laboratory. Additional chapters address other technologies found in the clinical laboratory that are complementary to molecular diagnostic methodologies, and also discuss genetic counseling and the ethical and social issues involved with nucleic acid testing.

Authoritative and state-of-the-art, Molecular Diagnostics: For the Clinical Laboratorian, 2nd Edition is the essential textbook of choice for anyone working in molecular diagnostics and who wants to remain current with this rapidly changing field.

Includes supplementary material: sn.pub/extras

Zusammenfassung
A tutorial guide to molecular diagnostic techniques that takes advantage of many new molecular technologies to include both improved traditional methods and totally new methods, some not yet in routine use. It offers molecular diagnostics for genetic disease, human cancers, infectious diseases, and identity testing.

Inhalt
An Historical Perspective on the Clinical Diagnostic Laboratory.- Basic Molecular Biology.- An Overview of Nucleic Acid Chemistry, Structure, and Function.- Extraction of Nucleic Acids.- Nucleic Acid Blotting Techniques.- The Polymerase Chain Reaction.- Bioinformatics.- Molecular Diagnostic Technologies.- PCR-Based Methods for Mutation Detection.- Alternative Methods for Amplified Nucleic Acid Testing.- Electrophoretic Methods for Mutation Detection and DNA Sequencing.- Single-Nucleotide Polymorphisms.- Microarray Approaches to Gene Expression Analysis.- Methods for Analysis of DNA Methylation.- Other Clinical Diagnostic Technologies.- Flow Cytometry.- Medical Cytogenetics.- Fluorescence In Situ Hybridization.- Immunohistochemistry.- Laser Capture Microdissection.- Quality Assurance in the Molecular Diagnostics Laboratory.- Framework for Quality Assurance in Molecular Diagnostics.- Verification of Molecular Assays.- Standards and Standardization of Molecular Diagnostics.- Laboratory-Developed Tests in Molecular Diagnostics.- Applications of Molecular Diagnostics for Genetic Diseases.- An Overview of Molecular Genetics.- Genetic Basis of Neurologic and Neuromuscular Diseases.- Molecular Mechanisms of Endocrine Disorders.- Molecular Pathogenesis of Cardiovascular Disease.- Molecular Diagnostics in Coagulation.- Cystic Fibrosis.- Prenatal Genotyping for Identification of Fetuses at Risk for Immune Cytopenic Disorders.- Personalized Medicine.- Applications of Molecular Diagnostics for Human Cancers.- Molecular Pathogenesis of Human Cancer.- Application of Molecular Diagnostics to Hereditary Nonpolyposis Colorectal Cancer.- Molecular Genetic Applications to the Diagnosis of Lymphoma.- Molecular Genetic Abnormalities in Acute and Chronic Leukemias.- Applications of MolecularDiagnostics for Infectious Diseases.- Molecular Testing for Chlamydia trachomatis and Neisseria gonorrhoeae.- Human Papillomavirus.- Molecular Diagnostics for HIV-1.- Hepatitis C.- Cytomegalovirus.- Applications of Molecular Diagnostics for Identity-Based Testing.- HLA Typing Using Molecular Methods.- Molecular Analysis for Forensic Casework and Parentage Testing.- Molecular Assessment of Bone Marrow Transplant Engraftment.- Use of DNA-Based Identity Testing for Specimen Identification.- Issues for the Clinical Molecular Pathology Laboratory.- Genetic Counseling Considerations in Molecular Diagnosis.- Ethical, Social, and Legal Issues Related to Molecular Genetic Testing.