General description
enthält folgende Tests: Makrothrombozytopenie (MTC), Präkallikrein Defizienz (KLK), Progressive Retinaatrophie (JPH2-PRA), Robinow-like-Syndrom (DVL2)
Shih Tzu
Order details
Test number | 8835 |
Sample material | 0,5 ml EDTA Blut, 2x Backenabstrich, 1x Spezialabstrich (eNAT) |
Test duration | 7-14 Werktage |
Präkallikrein Defizienz (KLK)
Test specifications
Symptom complex | hämatologisch |
Causality | ursächlich |
Gene | KLKB1 |
Mutation | A-T |
Literature | OMIA:000819-9615 |
Robinow-like-Syndrom (DVL2)
Test specifications
Symptom complex | skeletal |
Causality | assoziiert |
Gene | DVL2 |
Mutation | DEL |
Literature | OMIA:002186-9615 |
Progressive Retinaatrophie (JPH2-PRA)
Test specifications
Symptom complex | ophtalmisch |
Age of onset | 5-9 Jahre |
Causality | ursächlich |
Gene | JPH2 |
Mutation | A-C |
Literature | OMIA:000830-9615 |