Clinical Trial: Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]



Official Title: Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases

Brief Summary:

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