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Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases
In the study, NextGen SE are on-hand a cohort comprising each 50 pediatric and 50 adult patients, and in which there are an unclear movement disorder or an unclear cognitive disorder, examines the following questions : Primary: * Number of diagnoses made by NGS Secondary: 1. restriction of the quality of life by unclear disease 2. Cost of not purposeful preliminary diagnostics ( beyond the minimal diagnostic data set ) 3. Impact of the diagnosis to therapy and follow-up examinations 4. Time to diagnosis
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