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- W3022961817 abstract "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 effective and relatively inexpensive. Methods and Results: Pilot testing was performed with samples of clinically diagnosed Sotos cases (n=13), and testing was continued with samples of patients who were suspected of having Sotos syndrome (n=161). The testing methods used were direct sequencing and multiplex ligation-dependent probe amplification. Sotos syndrome was a suitable example for test translation, because its genetic background was well established, and the demand for the test was expected to be fairly high. In the pilot phase, a mutation was detected in 12 out of 13 patients (92%), and in the se..." @default.
- W3022961817 created "2020-05-13" @default.
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- W3022961817 date "2012-01-01" @default.
- W3022961817 modified "2023-09-24" @default.
- W3022961817 title "Translation of a Research-Based Genetic Test on a Rare Syndrome into Clinical Service Testing, with Sotos Syndrome As an Example" @default.
- W3022961817 hasPublicationYear "2012" @default.
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