General description
includes: Chondrodysplasia (CDPA) and -dystrophia (CDDY) (IVDD-risk), Osteogenesis imperfecta (brittle bone disease), Neuronal ceroid lipofuscinosis (NCL), Progressive retinal atrophy (cord1-PRA), Progressive retinal atrophy (crd-PRA)
Dachshund (Dackel)
Order details
| Test number | 8924 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Progressive retinal atrophy (crd-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 6 months |
| Causality | causally |
| Gene | NPHP4 |
| Mutation | COMPLEX |
| Literature | OMIA:001455-9615 |
Chondrodysplasia (CDPA) and -dystrophia (CDDY) (IVDD risk)
Test specifications
| Symptom complex | skeletal |
| Inheritance | dominant for CDPA, semi-dominant for CDDY-related leg length, dominant for IVDD risk |
| Causality | causally |
| Gene | FGF4 |
| Mutation | COMPLEX |
| Literature | OMIA:002542-9615 |
Progressive retinal atrophy (cord1/crd4-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | ab 6 months |
| Causality | scientifically not clearly clarified |
| Gene | RPGRIP1 |
| Mutation | INS |
| Literature | OMIA:001432-9615 |
