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Preface ................................................................ ............................................v Contributors .............................................................. ix 1 Optimizing PCR for Clinical Diagnosis Michael P. Bulman ...................................................... 1 2 Current and Emerging Techniques for Diagnostic Mutation Detection: An Overview of Methods for Mutation Detection Claire F. Taylor and Graham R. Taylor ...............................................9 3 Mutation Scanning for the Clinical Laboratory: DHPLC John F. Harvey and Julian R. Sampson ........................................... 45 4 Mutation Scanning for the Clinical Laboratory-Protein Truncation Test Yvonne Wallis......................................... 67 5 Mutation Scanning for the Clinical Laboratory: Automated Fluorescent Sequencing Andrew J. Wallace ........................ 81 6 Comparative Sequence Analysis Chris Mattocks, Patrick Tarpey, and Jo Whittaker........................ 115 7 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 .................................................................. 125 8 Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence-PCR Kathy Mann ......................................................................................... 141 9 Fragile X Disease Valerie Biancalana and James Macpherson .................................. 157 10 Huntington's Disease Linda Meredith ...................................................... 183 11 Hematological Applications: Hemoglobinopathies John M. Old ........................................................ .............. 203 12 Cystic Fibrosis Harry Cuppens, Elisabeth Dequeker, and Jean-Jacques Cassiman .......................... 221 13 Familial Adenomatous Polyposis Fiona Macdonald ...................................................... 245 14 Multiple Endocrine Neoplasia Types 1 and 2 Sian Ellard ..................................................... 267 15 Neurofibromatosis Type 1: A Common Familial Cancer Syndrome Meena Upadhyaya, Peter Thompson, Song Han, and David N. Cooper ....................................... 285 16 Duchenne and Becker Muscular Dystrophy Alexander L. J. Kneppers, leke B. Ginjaar, and Egbert Bakker...................................... 311 17 Spinal Muscular Atrophy Hans Scheffer ..................................................................................... 343 18 Quality Management in Molecular Genetics Els Voorhoeve, Alexander L. J. Kneppers, and Simon Patton ....................................... 359 19 Regulation of Genetic Testing in Clinical Practice Ulf Kristoffersson ..................................................... 369 Index .......................................................................... 377