General description
enthält: Ichthyose**, Progressive Retinaatrophie (GR-PRA1), Progressive Retinaatrophie (GR-PRA2), Progressive Retinaatrophie** (prcd-PRA) (Partnerlabor), Neuronale Ceroidlipofuszinose (NCL) und Muskel Dystrophie (MD)
Golden Retriever
Order details
| Test number | 8622 |
| Sample material | 0,5 ml EDTA Blut, 2x Backenabstrich, 1x Spezialabstrich (eNAT) |
| Test duration | 7-14 Werktage |
Progressive retinal atrophy (GR-PRA1)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 5 years |
| Causality | causally |
| Gene | SLC4A3 |
| Mutation | DEL |
| Literature | OMIA:001572-9615 |
Ichthyosis - Golden Retriever
Test specifications
| Symptom complex | dermatologic |
| Inheritance | autosomal recessive |
| Age of onset | a few weeks after birth |
| Causality | causally |
| Gene | PNPLA1 |
| Mutation | INS |
| Literature | OMIA:001588-9615 |
Progressive retinal atrophy (GR-PRA2)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 5 years |
| Causality | causally |
| Gene | TTC8 |
| Mutation | DEL |
| Literature | OMIA:001984-9615 |
Progressive retinal atrophy (prcd-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | PRCD |
| Mutation | C-T |
| Literature | OMIA:001298-9615 |
