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E-BOOK
Title Quality issues in clinical genetic services / U. Kristoffersson, J. Schmidtke, J.-J. Cassiman, editors.
Imprint Dordrecht ; New York : Springer, ©2010.

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Description 1 online resource (xxv, 393 pages) : illustrations
Bibliog. Includes bibliographical references and index.
Note Available only to authorized UTEP users.
Print version record.
Subject Medical genetics -- Technique -- Quality control.
Medical genetics -- Technique -- Standards.
Genetic disorders -- Patients -- Services for -- Quality control.
Genetic disorders -- Patients -- Services for -- Standards.
Genetic Techniques -- standards.
Patient Care -- methods.
Quality Control.
Genetics, Medical -- methods.
Genetics, Medical -- standards.
Genetic Diseases, Inborn.
Contents Foreword; Contents; Contributors; About the Authors; Improving Quality and Harmonization of Standards in Clinical Genetic Services in Europe: The EuroGentest Network of Excellence; The CanGneTest Pan-Canadian Research Consortium on Genetic Laboratory Services; Regulating Genetic Testing: The Relevance of Appropriate Definitions; Genetic Diseases as Rare Diseases: A European Policy View; European Regulatory Issues Related to Quality in Provision of Genetic Service; The European IVD Directive and Genetic Testing; Quality Issues in Genetics Services in the United Kingdom.
Summary Initially genetic disorders were all considered as rare diseases. At present, in the mid of 2009, the OMIM catalogue contains information on more than 12 000 entries of which about 2500 are available for clinical testing based on the identification of the responsible gene defect. However, altogether it has been estimated that about 8 per cent of a population in the economically developed countries will during their lifetime suffer from a disease mainly as the result of their genetic constitution. Adding to that, it is estimated that all diseases have a genetic component, which will determine w.
Other Author Kristoffersson, Ulf, 1948-
Schmidtke, J. (Jörg)
Cassiman, J.-J. (Jean-Jacques), 1943-
Other Title Print version: Quality issues in clinical genetic services. Dordrecht ; New York : Springer, ©2010 9789048139187 904813918X