General description
includes the following tests: Gallbladder mucoceles, progressive retinal atrophy (rcd3-PRA) Vitamin-D dependent rickets (VDR)
Pomeranian
Order details
| Test number | 8837 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Vitamin D dependent rickets (VDR)
Test specifications
| Symptom complex | skeletal |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | VDR |
| Mutation | DEL |
| Literature | OMIA:001431-9615 |
Gallbladder mucoceles (GBM)
Test specifications
| Symptom complex | systemic |
| Inheritance | autosomal dominant with incomplete penetrance |
| Causality | causally |
| Gene | ABCB4 |
| Mutation | INS |
| Literature | OMIA:001524-9615 |
Progressive retinal atrophy (rcd3-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 6-16 weeks |
| Causality | causally |
| Gene | PDE6A |
| Mutation | DEL |
| Literature | OMIA:001314-9615 |
