Molecular diagnosis of genetic diseases

the long version

Covers the techniques for the diagnosis of the both common and rare inherited conditions. The methods-organized by disease or diagnostic area-are robust and reproducible. They contain not only essential day-to-day benchtop wisdom and instruction, but also offers possibilities for introducing new molecular genetic diagnostic tests, as well as invaluable advice on controls, quality standards, and interpretation. Among the genetic diseases discussed are Duchenne/Becker muscular dystrophy, familial adenomatous polyposis, X-chromosome inactivation, Huntington's disease, fragile X disease, cystic fibrosis, and the hemoglobinopathies.