Molecular Diagnosis of Genetic Diseases

1. Front Matter

   Pages i-x

   PDF

2. Optimizing PCR for Clinical Diagnosis

   • Michael P. Bulman

   Pages 1-8

3. Current and Emerging Techniques for Diagnostic Mutation Detection

   • Claire F. Taylor, Graham R. Taylor

   Pages 9-44

4. Mutation Scanning for the Clinical Laboratory

   • John F. Harvey, Julian R. Sampson

   Pages 45-66

5. Mutation Scanning for the Clinical Laboratory-Protein Truncation Test

   • Yvonne Wallis

   Pages 67-79

6. Mutation Scanning for the Clinical Laboratory

   • Andrew J. Wallace

   Pages 81-114

7. Comparative Sequence Analysis

   • Chris Mattocks, Patrick Tarpey, Jo Whittaker

   Pages 115-124

8. Gene Dosage Analysis by Multiplex Amplifiable Probe Hybridization

   • John A. L. Armour, Isa A. Rad, Ed J. Hollox, Seyed M. Akrami, Gareth S. Cross

   Pages 125-139

9. Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence-PCR

   • Kathy Mann

   Pages 141-156

10. Fragile X Disease

    • Valérie Biancalana, James Macpherson

    Pages 157-182

11. Huntington’s Disease

    • Linda Meredith

    Pages 183-202

12. Hematological Applications

    • John M. Old

    Pages 203-219

13. Cystic Fibrosis

    • Harry Cuppens, Elisabeth Dequeker, Jean-Jacques Cassiman

    Pages 221-224

14. Familial Adenomatous Polyposis

    • Fiona Macdonald

    Pages 245-266

15. Multiple Endocrine Neoplasia Types 1 and 2

    • Sian Ellard

    Pages 267-283

16. Neurofibromatosis Type 1

    • Meena Upadhyaya, Peter Thompson, Song Han, David N. Cooper

    Pages 285-310

17. Duchenne and Becker Muscular Dystrophy

    • Alexander L. J. Kneppers, Ieke B. Ginjaar, Egbert Bakker

    Pages 311-341

18. Spinal Muscular Atrophy

    • Hans Scheffer

    Pages 343-358

19. Quality Management in Molecular Genetics

    • Els Voorhoeve, Alexander L. J. Kneppers, Simon Patton

    Pages 359-368

20. Regulation of Genetic Testing in Clinical Practice

    • Ulf Kristoffersson

    Pages 369-375

This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.

Reviews of the first edition:

"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

• UK National Genetics Reference Laboratory, Manchester, UK

  Rob Elles

• Liverpool Women’s Hospital, Liverpool, UK

  Roger Mountford

Policies and ethics