Molecular Diagnosis of Genetic Diseases

  • Rob Elles

Part of the Methods in Molecular Medicine™ book series (MIMM, volume 5)

Table of contents

  1. Front Matter
    Pages i-xi
  2. Andrew J. Wallace
    Pages 37-62
  3. Ian M. Frayling, Andrew J. Rowan
    Pages 63-98
  4. Martin Schwarz, Geraldine Malone
    Pages 99-119
  5. David O. Robinson, John F. Harvey
    Pages 141-152
  6. Andrew P. Read
    Pages 153-167
  7. John M. Old
    Pages 169-183
  8. Jayne S. Noble, Kim J. Leach, Lucy A. Ellis, Graham R. Taylor
    Pages 185-204
  9. Lauren Kerzin-Storrar
    Pages 205-217
  10. Pierre F. Ray, Alan H. Handyside
    Pages 245-258
  11. Joyce C. Harper, Joy D. A. Delhanty
    Pages 259-268
  12. Ian N. M. Day, Manjeet Bolla, Lema Haddad, Sandra O’Dell, Steve E. Humphries
    Pages 269-281
  13. Colin A. Graham, Alison J. M. Hill
    Pages 299-319
  14. Steve E. Humphries, Vilmundur Gudnason, Ros E. Whittall, Ian N. M. Day
    Pages 321-340
  15. Susan A. R. Stenhouse, Helen Middleton-Price
    Pages 341-352
  16. Back Matter
    Pages 353-356

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.

Editors and affiliations

  • Rob Elles
    • 1
  1. 1.Regional Molecular Genetics LaboratorySt. Mary’s HospitalManchesterUK

Bibliographic information

  • DOI
  • Copyright Information Humana Press 1996
  • Publisher Name Humana Press
  • eBook Packages Springer Protocols
  • Print ISBN 978-0-89603-346-7
  • Online ISBN 978-1-59259-589-1
  • Series Print ISSN 1543-1894
  • Series Online ISSN 1940-6037
  • Buy this book on publisher's site