General description
enthält: Hyperurikosurie (HUU/SLC), Juvenile Epilepsie (JE), Lagotto Speicherkrankheit (LSD), Furnishing, Neuroaxonale Dystrophie (NAD) und Progressive Retinaatrophie (prcd-PRA)**
Lagotto Romagnolo
Order details
| Test number | 8499 |
| Sample material | 0,5 ml EDTA Blut, 2x Backenabstrich, 1x Spezialabstrich (eNAT) |
| Test duration | 7-14 Werktage |
Hyperuricosuria (HUU/SLC)
Test specifications
| Symptom complex | urological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | SLC2A9 |
| Mutation | G-T |
| Literature | OMIA:001033-9615 |
Lagotto storage disease (LSD)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive with incomplete penetrance |
| Age of onset | 4 months - 4 years |
| Causality | causally |
| Gene | ATG4D |
| Mutation | C-T |
| Literature | OMIA:001954-9615 |
Juvenile epilepsy (JE)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 5-12 weeks |
| Causality | causally |
| Gene | LGI2 |
| Mutation | A-T |
| Literature | OMIA:001596-9615 |
Progressive retinal atrophy (prcd-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | PRCD |
| Mutation | C-T |
| Literature | OMIA:001298-9615 |
