General description
enthält folgende Tests: (Fanconi-Syndrom, Progressive Retinaatrophie (Bas-PRA1), Pyruvatkinase-Defizienz (PK))
Basenji
Order details
Test number | 8815 |
Sample material | 0,5 ml EDTA Blut, 2x Backenabstrich, 1x Spezialabstrich (eNAT) |
Test duration | 7-14 Werktage |
Fanconi-Syndrom
Test specifications
Symptom complex | nephrologisch |
Age of onset | 4-8 Jahre |
Causality | ursächlich |
Gene | FAN1 |
Mutation | COMPLEX |
Literature | OMIA:002683-9615 |
Progressive Retinaatrophie (Bas-PRA1)
Test specifications
Symptom complex | ophtalmisch |
Age of onset | 5 Jahre |
Causality | ursächlich |
Gene | SAG |
Mutation | T-C |
Literature | OMIA:001876-9615 |