Molecular Diagnostics 12 Tests That Changed Everything

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

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W. Edward Highsmith, Jr. Editor

Molecular Diagnostics 12 Tests That Changed Everything

Molecular and Translational Medicine

Series Editors William B. Coleman Gregory J. Tsongalis

For further volumes: http://www.springer.com/series/8176

W. Edward Highsmith, Jr. Editor

Molecular Diagnostics 12 Tests That Changed Everything

Editor W. Edward Highsmith, Jr. Department of Laboratory Medicine and Pathology Mayo Clinic College of Medicine Rochester, MN, USA

ISBN 978-1-4614-8126-3 ISBN 978-1-4614-8127-0 (eBook) DOI 10.1007/978-1-4614-8127-0 Springer New York Heidelberg Dordrecht London Library of Congress Control Number: 2013944657 © Springer Science+Business Media New York 2014 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied specifically for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Duplication of this publication or parts thereof is permitted only under the provisions of the Copyright Law of the Publisher’s location, in its current version, and permission for use must always be obtained from Springer. Permissions for use may be obtained through RightsLink at the Copyright Clearance Center. Violations are liable to prosecution under the respective Copyright Law. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. While the advice and information in this book are believed to be true and accurate at the date of publication, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein. Printed on acid-free paper Humana Press is a brand of Springer Springer is part of Springer Science+Business Media (www.springer.com)

Foreword: From Molecular Pathology to Genomic Pathology

Since the first report of PCR in 1985, a new discipline has evolved within laboratory medicine based on detecting nucleotide sequences in clinical samples. This discipline was first designated “molecular pathology” in David Weatherall’s book “The New Genetics and Clinical Practice” where he wrote “(D)uring the last few years there have been remarkable advances in molecular biology…(that) have been applied to the study of human genes, both in health a