Osteogenesis imperfecta (brittle bone disease)
Osteogenesis imperfecta (brittle bone disease)
General description
Osteogenesis imperfecta is characterized by extremely fragile bones and teeths due to defects in the structure of collagen I. First symptoms appear already at young age.
Breeds
Beagle, Dachshund (Dackel), Golden Retriever, Long-Haired Dachshund, Short-Haired Dachshund, Wire-Haired Dachshund
Detailed description
Osteogenesis imperfecta is characterized by extremely fragile bones and teeths due to defects in the structure of collagen I. First symptoms appear already at young age.
Osteogenesis imperfecta - Dachshund (Dackel)
The symptoms described in this breed can be found in the text above.
Order details
| Test number | 8215 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | skeletal |
| Causality | causally |
| Gene | SERPINH1 |
| Mutation | A-G |
| Literature | OMIA:001483-9615 |
Osteogenesis imperfecta - Golden Retriever
The symptoms described in this breed can be found in the text above.
Order details
| Test number | 8215 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | skeletal |
| Causality | causally |
| Gene | COL1A1 |
| Mutation | C-G |
| Literature | OMIA:002126-9615 |
