General description
enthält:
Chondrodysplasie und -dystrophie (CDDY/CDPA, IVDD-Risiko), L-2-Hydroxyglutaracidurie (L2HGA), Primäre Linsenluxation (PLL), Progressive Retinaatrophie*** (prcd-PRA) und Subakute nekrotisierende Enzephalopathie (SNE)
Yorkshire Terrier
Order details
Test number | 8757 |
Sample material | 0,5 ml EDTA Blut, 2x Backenabstrich, 1x Spezialabstrich (eNAT) |
Test duration | 7-14 Werktage |
Chondrodysplasie u. -dystrophie (CDDY & CDPA) (IVDD-Risiko)
Test specifications
Symptom complex | skeletal |
Causality | ursächlich |
Gene | FGF4 |
Mutation | COMPLEX |
Literature | OMIA:002542-9615 |
Subakute nekrotisierende Enzephalopathie (SNE)
Test specifications
Symptom complex | neurologisch |
Age of onset | 0-12 Monate |
Causality | ursächlich |
Gene | SLC19A3 |
Mutation | INS |
Literature | OMIA:001097-9615 |
Progressive Retinaatrophie (prcd-PRA)
Test specifications
Symptom complex | ophtalmisch |
Causality | ursächlich |
Gene | PRCD |
Mutation | C-T |
Literature | OMIA:001298-9615 |
Primäre Linsenluxation (PLL)
Test specifications
Symptom complex | ophtalmisch |
Age of onset | 3-8 Jahre |
Causality | ursächlich |
Gene | ADAMTS17 |
Mutation | G-A |
Literature | OMIA:000588-9615 |