Optimizing PCR for Clinical Diagnosis -- Current and Emerging Techniques for Diagnostic Mutation Detection -- Mutation Scanning for the Clinical Laboratory -- Mutation Scanning for the Clinical Laboratory-Protein Truncation Test -- Mutation Scanning for the Clinical Laboratory -- Comparative Sequence Analysis -- Gene Dosage Analysis by Multiplex Amplifiable Probe Hybridization -- Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence-PCR -- Fragile X Disease -- Huntington's Disease -- Hematological Applications -- Cystic Fibrosis -- Familial Adenomatous Polyposis -- Multiple Endocrine Neoplasia Types 1 and 2 -- Neurofibromatosis Type 1 -- Duchenne and Becker Muscular Dystrophy -- Spinal Muscular Atrophy -- Quality Management in Molecular Genetics -- Regulation of Genetic Testing in Clinical Practice.

In this new edition, leading scientists actively engaged in providing clinical molecular genetic testing have completely revised and updated this highly praised work to include the many new technologies and insights now available for the diagnosis of genetic diseases. Now organized around generic technologies applied to disease-specific diagnosis, 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. This new edition widens the range of specific diagnostic applications and includes such new topics as comparative sequence analysis and an overview of methods in mutation detection. The 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. As in the first edition, each readily reproducible protocol contains step-by-step instructions, background information, equipment and reagent lists, and tips on troubleshooting and avoiding known pitfalls. Up-to-date and highly practical, Molecular Diagnosis of Genetic Diseases, Second Edition integrates all the latest technologies with the now standard approaches of the first edition, and offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.