Quality Issues in Clinical Genetic Services

• Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
• Άλλοι συγγραφείς: Kristoffersson, Ulf (Επιμελητής έκδοσης), Schmidtke, Jörg (Επιμελητής έκδοσης), Cassiman, J. J. (Επιμελητής έκδοσης)
• Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
• Γλώσσα: English
• Έκδοση: Dordrecht : Springer Netherlands, 2010.
• Θέματα: 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...