Molecular Diagnostics -

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Résumé :
In 1994 I coedited a book, Molecular Pathology: Ap- efforts. It should be evident that molecular pathology and proaches to Diagnosing Human Disease in the Clinical diagnostics impact almost every conceivable subspecialty Laboratory, that coined the phrase ?molecular pathology? in laboratory medicine and, particularly in the case of to refer to applications of molecular biology in the tradi- pharmacogenomics, have led to the development of new tional areas of laboratory medicine. That compilation of areas of investigation. clinical molecular techniques included 11 chapters and an What is less evident is the burden placed upon the epilogue on ?New Directions for the Clinical Laboratory. ? laboratorians directing these efforts. Issues regarding Chapter headings included: automation, neoplasia, heri- training, certification, continuing education, and re- table diseases, and infectious diseases. bursement (just to name a few) have demanded enormous Three years later, in 1997, Bill Coleman and Greg Tson- time and effort from professional organizations and g- galis edited Molecular Diagnostics: For the Clinical ernmental agencies. In addition, because conventional Laboratorian, which contained 18 chapters and introduced approaches cannot always be applied to molecular di- the new areas of RT-PCR and In Situ PCR, and included nostics, unique solutions for quality assurance and quality a section on gene therapy. Now, ten years after the intro- control must be developed. These challenges have eng- duction of molecular pathology, we are looking at the dered committees, subcommittees, taskforces, and second edition of Bill Coleman and Greg Tsongalis? text.

Sommaire:
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.