Article
Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example.
Genetic testing and molecular biomarkers - 1 Oct 2012
Pohjola Pia, Peippo Maarit, Penttinen Maila T, Elenius Klaus, Kääriäinen Helena
Abstract excerpt
BACKGROUND AND AIMS: It is often the case that the genetic background of a rare disease has been solved, but the testing of a clinical patient can be performed only through research projects. Translating a research-based test into diagnostic service may also appear laborious and costly. Based on our molecular research of the genetics of Sotos syndrome, we developed a clinical laboratory test that is both...
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