Molecular Diagnostic Methods For Genetic Diseases Approved Guideline
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Molecular Diagnostic Methods For Genetic Diseases Approved Guideline
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Author :
language : en
Publisher:
Release Date : 2007
Molecular Diagnostic Methods For Genetic Diseases Approved Guideline written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007 with Molecular biology categories.
"This document provides guidance for the use of molecular biological techniques for clinical detection of heritable mutations associated with genetic disease"--Cover.
Molecular Diagnostic Methods For Genetic Diseases Approved Guideline
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Author : Dale H. Altmiller
language : en
Publisher:
Release Date : 2000
Molecular Diagnostic Methods For Genetic Diseases Approved Guideline written by Dale H. Altmiller and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2000 with Pathological laboratories categories.
Molecular Diagnostics
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Author : Wayne W. Grody
language : en
Publisher: Academic Press
Release Date : 2009-11-06
Molecular Diagnostics written by Wayne W. Grody and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009-11-06 with Science categories.
Advances in genomic and proteomic profiling of disease have transformed the field of molecular diagnostics, thus leading the way for a major revolution in clinical practice. While the range of tests for disease detection and staging is rapidly expanding, many physicians lack the knowledge required to determine which tests to order and how to interpret results. Molecular Diagnostics provides a complete guide to the use and interpretation of molecular testing in the clinical arena. No other available resource offers this emphasis, comprehensive scope, and practical utility in the clinical setting. Serves as the definitivereference for molecular pathologists worldwide Covers a variety of molecular techniques including next generation sequencing, tumor somatic cell genotyping, infectious and genetic disease tecting, and pharmacogenetics Discusses in the detail issues concerning quality assurance, regulation, ethics, and future directions for the science
Fundamentals Of Molecular Diagnostics
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Author : David E. Bruns
language : en
Publisher: Elsevier Health Sciences
Release Date : 2007-05-25
Fundamentals Of Molecular Diagnostics written by David E. Bruns and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007-05-25 with Medical categories.
This book offers an introduction to the newest, fastest-growing field in laboratory science. Explaining and clarifying the molecular techniques used in diagnostic testing, this text provides both entry-level and advanced information. It covers the principles of molecular biology along with genomes and nucleic acid alterations, techniques and instrumentation, and applications of molecular diagnostics. Written by leading experts, including Patrick Bossuyt, Angela Caliendo, Rossa W.K. Chiu, Kojo S.J. Elenitoba-Johnson, Andrea Ferreira-Gonzalez, Amy Groszbach, Sultan Habeebu, Doris Haverstick, Malek Kamoun, Anthony Killeen, Noriko Kusukawa, Y.M. Dennis Lo, Elaine Lyon, Gwendolyn McMillin, Christopher Price, James Versalovic, Cindy Vnencak-Jones, Victor Weedn, Peter Wilding, Thomas Williams, and Carl Wittwer, this book includes illustrations, tables, and a colorful design to make information easy to find and easy to use. A full-color, 4-page insert shows realistic images of the output for many molecular tests. Learning Objectives open each chapter with an overview of what you should achieve. Key Words are listed and defined at the beginning of each chapter, and are bolded in the text. Review Questions at the end of every chapter let you measure your comprehension. Advanced Concepts are included, but set apart from the rest of the text, for students who want a higher level of learning. Ethics boxes address ethical issues, allowing you to apply your knowledge to real-life scenarios. A glossary of all key words may be easily accessed in the back of the book.
Diagnostic Molecular Pathology
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Author : William B. Coleman
language : en
Publisher: Academic Press
Release Date : 2023-10-27
Diagnostic Molecular Pathology written by William B. Coleman and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-10-27 with Science categories.
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
Molecular Diagnostics
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Author : W. Edward Highsmith, Jr.
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-09-20
Molecular Diagnostics written by W. Edward Highsmith, Jr. and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-09-20 with Medical categories.
Molecular Diagnostics: 12 Tests That Changed Everything focuses on specific laboratory tests and emphasizes how the availability of these tests has altered how clinicians treat their patients. Presented as a standard outline, each chapter focuses on a specific molecular test and provides background on the test and its clinical applications. Continuing with some discussion on how the test is done, interpreted, and used clinically, each chapter then concludes with a discussion of how that test has changed the way medicine is practiced with respect to the disease or condition in question. Authored by renowned experts in the field, Molecular Diagnostics: 12 Tests That Changed Everything is a valuable resource for pathologists, pathology residents, laboratory directors, development personnel, lab medicine fellows and those working in the broad area of oncology, infectious disease and genetics.
Principles And Applications Of Molecular Diagnostics
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Author : Nader Rifai
language : en
Publisher: Elsevier
Release Date : 2018-06-13
Principles And Applications Of Molecular Diagnostics written by Nader Rifai and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-06-13 with Science categories.
Principles and Applications of Molecular Diagnostics serves as a comprehensive guide for clinical laboratory professionals applying molecular technology to clinical diagnosis. The first half of the book covers principles and analytical concepts in molecular diagnostics such as genomes and variants, nucleic acids isolation and amplification methods, and measurement techniques, circulating tumor cells, and plasma DNA; the second half presents clinical applications of molecular diagnostics in genetic disease, infectious disease, hematopoietic malignancies, solid tumors, prenatal diagnosis, pharmacogenetics, and identity testing. A thorough yet succinct guide to using molecular testing technology, Principles and Applications of Molecular Diagnostics is an essential resource for laboratory professionals, biologists, chemists, pharmaceutical and biotech researchers, and manufacturers of molecular diagnostics kits and instruments. Explains the principles and tools of molecular biology Describes standard and state-of-the-art molecular techniques for obtaining qualitative and quantitative results Provides a detailed description of current molecular applications used to solve diagnostics tasks
Diagnostic Molecular Pathology
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Author : William B. Coleman
language : en
Publisher: Elsevier
Release Date : 2023-04-15
Diagnostic Molecular Pathology written by William B. Coleman and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-04-15 with Medical categories.
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
Genome Based Diagnostics
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Author : Institute of Medicine
language : en
Publisher: National Academies Press
Release Date : 2012-06-27
Genome Based Diagnostics written by Institute of Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-06-27 with Medical categories.
The sequencing of the human genome and the identification of associations between specific genetic variants and diseases have led to an explosion of genomic-based diagnostic tests. These tests have the potential to direct therapeutic interventions, predict risk or onset of disease, or detect residual disease. As research progresses and an increasing number of associations are found, further tests will be developed that can aid in providing personalized treatment options for patients. However, the adoption of genomic diagnostic tests by health care providers has been limited due to a lack of evidence regarding the clinical utility of many tests. Health funders and practitioners lack the data necessary to distinguish which tests can improve practice or the clinical settings in which tests will provide the greatest value. The Roundtable on Translating Genomic-Based Research for Health held a workshop in November 2010 to determine what evidence is needed and how it is viewed by different stakeholders in order to develop genomic diagnostic tests of clinical value. Genome-Based Diagnostics summarizes the presentations and discussions that took place throughout the workshop. Two presentations, in particular, sparked extensive discussion. One presentation proposed that all genomic diagnostic tests be reviewed and approved by the Food and Drug Administration. The other observed that venture capitalists are no longer investing substantially in the development of genomic diagnostic tests because of a lack of clarity surrounding regulatory and reimbursement pathways. Both presentations suggested the need for major changes in the systems used to develop, regulate, and reimburse genomic diagnostic tests. The report also presents the perspectives of different stakeholders in the development of genomic diagnostic tests. Each stakeholder group has a different set of needs and issues of importance, yet commonalities among them are apparent, such as the need to put patients and health outcomes at the center of discussion and action.
Molecular Diagnosis Of Genetic Diseases
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Author : Rob Elles
language : en
Publisher: Springer Science & Business Media
Release Date : 2008-02-01
Molecular Diagnosis Of Genetic Diseases written by Rob Elles and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-02-01 with Medical categories.
This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.