Optimizing PCR for Clinical Diagnosis Michael P. Bulman Current and Emerging Techniques for Diagnostic Mutation Detection: An Overview of Methods for Mutation Detection Claire F. Taylor and Graham R. Taylor Mutation Scanning for the Clinical Laboratory: DHPLC John F. Harvey and Julian R. Sampson Mutation Scanning for the Clinical Laboratory-Protein Truncation Test Yvonne Wallis Mutation Scanning for the Clinical Laboratory: Automated Fluorescent Sequencing Andrew J. Wallace Comparative Sequence Analysis Chris Mattocks, Patrick Tarpey, and Jo Whittaker Gene Dosage Analysis by Multiplex Amplifiable Probe Hybridization John A. L. Armour, Isa A. Rad, Ed J. Hollox, Seyed M. Akrami, and Gareth S. Cross Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence-PCR Kathy Mann Fragile X Disease Valerie Biancalana and James Macpherson Huntington's Disease Linda Meredith Hematological Applications: Hemoglobinopathies John M. Old Cystic Fibrosis Harry Cuppens, Elisabeth Dequeker, and Jean-Jacques Cassiman Familial Adenomatous Polyposis Fiona Macdonald Multiple Endocrine Neoplasia Types 1 and 2 Sian Ellard Neurofibromatosis Type 1: A Common Familial Cancer Syndrome Meena Upadhyaya, Peter Thompson, Song Han, and David N. Cooper Duchenne and Becker Muscular Dystrophy Alexander L. J. Kneppers, Ieke B. Ginjaar, and Egbert Bakker Spinal Muscular Atrophy Hans Scheffer Quality Management in Molecular Genetics Els Voorhoeve, Alexander L. J. Kneppers, and Simon Patton Regulation of Genetic Testing in Clinical Practice Ulf Kristoffersson Index

This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases.