Quality Issues in Clinical Genetic Services

• Corporate Author: SpringerLink (Online service)
• Other Authors: Kristoffersson, Ulf (Editor), Schmidtke, Jörg (Editor), Cassiman, J. J. (Editor)
• Format: Electronic eBook
• Language: English
• Published: Dordrecht : Springer Netherlands, 2010.
• Subjects: Medicine.; Human genetics.; Laboratory medicine.; Medical education.; Biomedicine.; Laboratory Medicine.; Medicine/Public Health, general.; Human Genetics.; Medical Education.

Initially genetic disorders were all considered as rare diseases. At present, in the mid of 2009, the OMIM catalogue contains information on more than 12 000 entries of which about 2500 are available for clinical testing based on the identification of the responsible gene defect. However, altogether...