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Book Molecular diagnostic methods for genetic diseases   approved guideline

Download or read book Molecular diagnostic methods for genetic diseases approved guideline written by and published by . This book was released on 2007 with total page 61 pages. Available in PDF, EPUB and Kindle. Book excerpt: "This document provides guidance for the use of molecular biological techniques for clinical detection of heritable mutations associated with genetic disease"--Cover.

Book Molecular Diagnostics

    Book Details:
  • Author : Wayne W. Grody
  • Publisher : Academic Press
  • Release : 2009-11-06
  • ISBN : 0080919049
  • Pages : 518 pages

Download or read book Molecular Diagnostics written by Wayne W. Grody and published by Academic Press. This book was released on 2009-11-06 with total page 518 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Book Fundamentals of Molecular Diagnostics

Download or read book Fundamentals of Molecular Diagnostics written by David E. Bruns and published by Elsevier Health Sciences. This book was released on 2007-05-25 with total page 298 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Book Molecular Diagnostics

    Book Details:
  • Author : W. Edward Highsmith, Jr.
  • Publisher : Springer Science & Business Media
  • Release : 2013-09-20
  • ISBN : 1461481279
  • Pages : 260 pages

Download or read book Molecular Diagnostics written by W. Edward Highsmith, Jr. and published by Springer Science & Business Media. This book was released on 2013-09-20 with total page 260 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Book Molecular Diagnostic Methods for Genetic Diseases

Download or read book Molecular Diagnostic Methods for Genetic Diseases written by NCCLC and published by . This book was released on 1997-01-01 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Book Principles and Applications of Molecular Diagnostics

Download or read book Principles and Applications of Molecular Diagnostics written by Nader Rifai and published by Elsevier. This book was released on 2018-06-13 with total page 424 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Book Diagnostic Molecular Pathology

Download or read book Diagnostic Molecular Pathology written by William B. Coleman and published by Elsevier. This book was released on 2023-04-15 with total page 844 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Book Molecular Diagnostic Methods for Infectious Disease  Approved Guideline

Download or read book Molecular Diagnostic Methods for Infectious Disease Approved Guideline written by Frederick S. Nolte and published by . This book was released on 2006-02 with total page 75 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Book Molecular Diagnostic Methods for Infectious Diseases

Download or read book Molecular Diagnostic Methods for Infectious Diseases written by NCCLS (The National Committee for Clinical Laboratory Standards) and published by . This book was released on 1995-12-01 with total page 55 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Book Pocket Guide to Gene Level Diagnostics in Clinical Practice

Download or read book Pocket Guide to Gene Level Diagnostics in Clinical Practice written by Victor A. Bernstam and published by CRC Press. This book was released on 2019-04-23 with total page 560 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pocket Guide to Gene Level Diagnostics in Clinical Practice is an abbreviated, pocket-size, quick-reference guide that provides a point-by-point synopsis of the vast wealth of information contained in CRC Handbook of Gene Level Diagnostics in Clinical Practice. All sections and subsections in the Pocket Guide are cross-referenced to corresponding pages in the Handbook. The book works well on its own as a quick reference, but also can be used in conjunction with the larger Handbook for detailed coverage and references to specific information. Pocket Guide to Gene Level Diagnostics in Clinical Practice also includes extensive supplements featuring material not included in the Handbook. These are intended to provide an up-dated, practical source of information useful to anyone involved in molecular diagnostic research and/or service. Supplements are cross-referenced to the main text of the Pocket Guide, that complement and enhance the material covered. Pocket Guide to Gene Level Diagnostics in Clinical Practice will be a handy reference for professionals and students in pathology, biotechnology, biology, and medicine.

Book Genome Based Diagnostics

    Book Details:
  • Author : Institute of Medicine
  • Publisher : National Academies Press
  • Release : 2012-06-27
  • ISBN : 0309253977
  • Pages : 104 pages

Download or read book Genome Based Diagnostics written by Institute of Medicine and published by National Academies Press. This book was released on 2012-06-27 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Book Molecular Diagnostics

    Book Details:
  • Author : William B. Coleman
  • Publisher : Springer Science & Business Media
  • Release : 2007-10-28
  • ISBN : 1592599281
  • Pages : 593 pages

Download or read book Molecular Diagnostics written by William B. Coleman and published by Springer Science & Business Media. This book was released on 2007-10-28 with total page 593 pages. Available in PDF, EPUB and Kindle. Book excerpt: Accompanying CD-ROM contains ... "a companion eBook version of Molecular diagnostics : for the clinical laboratorian, Second edition ... for downloading and use in the reader's PC or PDA."--Page 4 of cover.

Book Quality Management for Molecular Genetic Testing

Download or read book Quality Management for Molecular Genetic Testing written by Bin Chen and published by . This book was released on 2012 with total page 132 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Book Genome Based Diagnostics

    Book Details:
  • Author : Roundtable on Translating Genomic-Based Research for Health
  • Publisher : National Academies Press
  • Release : 2014-01-10
  • ISBN : 9780309269599
  • Pages : 0 pages

Download or read book Genome Based Diagnostics written by Roundtable on Translating Genomic-Based Research for Health and published by National Academies Press. This book was released on 2014-01-10 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genome-Based Diagnostics: Demonstrating Clinical Utility in Oncology is the summary of a workshop convened in May 2012 by the Roundtable on Translating Genomic-Based Research for Health and the Center for Medical Technology Policy of the Institute of Medicine to foster the identified need for further sustained dialogue between stakeholders regarding the clinical utility of molecular diagnostics. The workshop brought together a wide range of stakeholders, including patients, health care providers, policy makers, payers, diagnostic test developers, researchers, and guideline developers, to identify the challenges and opportunities in advancing the development and use of molecular diagnostic tests designed to guide the treatment and management of patients with cancer. The sequencing of the human genome has greatly accelerated the process of linking specific genetic variants with disease. These findings have yielded a rapidly increasing number of molecular diagnostic tests designed to guide disease treatment and management. Many of these tests are aimed at determining the best treatments for specific forms of cancer, making oncology a valuable testing ground for the use of molecular diagnostic tests in medicine in general. Nevertheless, many questions surround the clinical value of molecular diagnostic tests, and their acceptance by clinicians, payers, and patients has been unpredictable. A major limiting factor for the use of these tests has been the lack of clear evidence of clinical utility. Genome-Based Diagnostics assesses the evidentiary requirements for clinical utility of molecular diagnostics used to guide treatment decisions for patients with cancer; discusses methodologies related to demonstrating these evidentiary requirements that meet the needs of all stakeholders; and considers innovative, sustainable research collaborations for generating evidence of clinical utility involving multiple stakeholders.

Book Molecular Diagnosis of Genetic Diseases

Download or read book Molecular Diagnosis of Genetic Diseases written by Rob Elles and published by . This book was released on 2002-11 with total page 450 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition of Molecular Diagnosis of Genetic Diseases greatly expands and updates the information contained in the first edition. In addition, the book is now divided into two logical sections comprising a total of 55 chapters. The first section covers the applications of molecular diagnostics in clinical practice. Each application chapter opens with a brief introduction, and then describes categories of referral and guidance on suitable referral criteria for genetic testing, and also provides a descriptive overview of the various methods used in testing. At the core of each chapter is a handy table listing key primers and conditions for testing. Chapters also discuss controls, pitfalls, and offer guidance on interpretation and reporting. The basic techniques chapters provide step-by-step methods such as PCR, hybridization assays and detection techniques that can be easily reproduced in the genetics testing lab. Together, these 55 chapters provide a comprehensive reference for the molecular diagnosis of genetic diseases.

Book Molecular Genetic Testing in Surgical Pathology

Download or read book Molecular Genetic Testing in Surgical Pathology written by John D. Pfeifer and published by Lippincott Williams & Wilkins. This book was released on 2006 with total page 530 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by experts from Washington University School of Medicine, this text is a thorough review of the specific molecular genetic techniques that can provide diagnostically useful molecular genetic information on tissue samples—including cytogenetics, fluorescence in situ hybridization (FISH), PCR, electrophoresis and hybridization analysis, DNA sequence analysis, and microarrays. The first part of the book describes each technique, indicates its advantages, disadvantages, capabilities, and limitations, and systematically addresses sensitivity and specificity issues. Subsequent chapters, organized by organ system, detail the specific applications of these tests in surgical pathology. More than 150 full-color and black-and-white illustrations complement the text.