Suspected monogenetic disease, regardless of organ system involved
Conditions
Interventions
Group 1: Rapid trio genome sequencing
Sponsors
Institut für Humangenetik
Eligibility
Sex/Gender
All
Age
No minimum to 14 Years
Inclusion criteria
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
Exclusion criteria: Obvious non-genetic causes such as trauma
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Molecular diagnosis including spectrum of variants and turn around time | — |
Secondary
| Measure | Time frame |
|---|---|
| Clinical utility for physicians and parents, cost analysis | — |
Countries
Germany
Contacts
Public ContactBernd Auber
Institut für Humangenetik
Outcome results
None listed