Overview
- Editors:
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Rob Elles
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Regional Molecular Genetics Laboratory, St. Mary’s Hospital, Manchester, UK
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Table of contents (20 protocols)
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- Ian M. Frayling, Andrew J. Rowan
Pages 63-98
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- Martin Schwarz, Geraldine Malone
Pages 99-119
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- Simon C. Ramsden, Paul J. Sinnott
Pages 121-140
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- David O. Robinson, John F. Harvey
Pages 141-152
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- Jayne S. Noble, Kim J. Leach, Lucy A. Ellis, Graham R. Taylor
Pages 185-204
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- John F. Harvey, John A. Crolla
Pages 219-236
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- Pierre F. Ray, Alan H. Handyside
Pages 245-258
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- Joyce C. Harper, Joy D. A. Delhanty
Pages 259-268
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- Ian N. M. Day, Manjeet Bolla, Lema Haddad, Sandra O’Dell, Steve E. Humphries
Pages 269-281
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- David J. Cockburn, Anneke Seller
Pages 283-298
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- Colin A. Graham, Alison J. M. Hill
Pages 299-319
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- Steve E. Humphries, Vilmundur Gudnason, Ros E. Whittall, Ian N. M. Day
Pages 321-340
About this book
Many previous volumes concerned with methodology in human genetics have been written by research scientists and naturally reflect that culture. Molecular Diagnosis of Genetic Diseases aims to diverge from previous titles by presenting contributions that cover a key method in detail, but are set in the context of a diagnostic area or genetic disease. In this format, the book attempts to cover nearly all of the most common genetic disease diagnostics that are offered as services by clinical molecular genetics laboratories, thus contributing a reasonably comprehensive handbook for this type of center. Most of the authors are active scientists working in clinical diagnostics. The methods reflect their working experience in attempting to assure robust, reli able results, and to include essential controls, quality standards, and interpre tive guides. Molecular Diagnosis of Genetic Diseases is primarily aimed at scien tists, clinicians, and technologists working in clinical molecular genetics, especially those working in, or with, diagnostic laboratories. Others who will find the book useful include students and scientific workers at the interface of research genetics and diagnostics, forensic scientists, and biotechnologists. Those concerned with the commercial development of the diagnostic field and with regulation or improvement in standards in molecular genetics, both in professional bodies or government agencies, will also be interested in this book. In addition, scientists planning to develop novel molecular genetic diagnostics in countries with little or no experience in this field will find the book a usefixl starting point.
Reviews
"The chapters are clear and well written, and the book would be useful to those looking for a technique manual directed specifically toward clinical application of molecular genetic diagnostic testing. Three Stars" -Doody's Health Sciences Book Review Journal
"The book's scope, crisp text, attention to details, and spiral binding all make this a useful benchtop reference manual, to which this already stained copy will testify." -Laboratory Corporation of America
"With its contribution to the series Methods in Molecular Medicine, Rob Elles has filled a gap...provides a fairly complete view on the current state of the art in clinical molecular genetics. A wealth of information and experience is described by Elles." -Med Genet
"This book will be widely welcomed by scientists involved in the molecular diagnosis of inherited disorders. For the first time, protocols, support information and references for a dozen single gene disorders are gathered into a single source. "-Trends in Genetics
"This volume is an excellent choice for clinical molecular geneticists, particularly those working in diagnostic laboratories." -Clinical Laboratory International
"...robust and reliable...an indispensable tool for clinicians, scientists, and technologists in clinical molecular genetics, especially these working in diagnostic laboratories." - Tumori
Editors and Affiliations
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Regional Molecular Genetics Laboratory, St. Mary’s Hospital, Manchester, UK
Rob Elles
