Clinical utility of rapid genome sequencing in critically ill children in Germany
- Conditions
- Suspected monogenetic disease, regardless of organ system involved
- Registration Number
- DRKS00025163
- Lead Sponsor
- Institut für Humangenetik
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Complete
- Sex
- All
- Target Recruitment
- 130
Inclusion Criteria
Critically ill child on NICU or PICU with suspected genetic disorder (e.g. complex disease presentation involving two or more organ systems, unusually severe disease manifestation requiring intensive care, other family members with similar symptoms, extremely dystrophic newborns)
Exclusion Criteria
Obvious non-genetic causes such as trauma
Study & Design
- Study Type
- observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Molecular diagnosis including spectrum of variants and turn around time
- Secondary Outcome Measures
Name Time Method Clinical utility for physicians and parents, cost analysis