General description
enthält: Genetische Blutgruppe, Progressive Retinaatrophie (rdAc-PRA), Progressive Retinaatrophie (b-PRA) und Pyruvatkinase-Defizienz (PK).
Bengal
Order details
Test number | 8717 |
Sample material | 0,5 ml EDTA Blut, 2x Backenabstrich, 1x Spezialabstrich (eNAT) |
Test duration | 7-14 Werktage |
Pyruvatkinase-Defizienz (PK)
Test specifications
Symptom complex | hämatologisch |
Causality | ursächlich |
Gene | PKLR |
Mutation | G-A |
Literature | OMIA:000844-9685 |
genetische Blutgruppenbestimmung
Test specifications
Symptom complex | hämatologisch |
Causality | ursächlich |
Gene | CMAH |
Mutation | COMPLEX |
Literature | OMIA:000119-9685 |
Progressive Retinaatrophie (rdAc-PRA)
Test specifications
Symptom complex | ophtalmisch |
Age of onset | 1,5-2 Jahre |
Causality | ursächlich |
Gene | CEP290 |
Mutation | A-C |
Literature | OMIA:001244-9685 |
Progressive Retinaatrophie (b-PRA)
Test specifications
Symptom complex | ophtalmisch |
Age of onset | 7 Wochen |
Causality | ursächlich |
Gene | KIF3B |
Mutation | C-T |
Literature | OMIA:002267-9685 |