General description
includes: Hyperurikosuria (HUU/SLC), Juvenile epilepsy (JE), Lagotto storage disease (LSD), Neuroaxonal dystrophy (NAD), Progressive retinal atrophy (prcd-PRA)** and Furnishing (wire hair)
Lagotto Romagnolo
Order details
| Test number | 8499 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
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 |
