General description
includes (30 Euro patent fee): Chondrodysplasia (CDPA) and -dystrophia (CDDY) (IVDD-risk), Degenerative myelopathy (DM exon2), Haemophilia A (Factor VIII deficiency), Macrothrombocytopenia (MTC), Furnishing
Havanese
Order details
| Test number | 8929 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Degenerative myelopathy exon 2 (DM exon 2)
Test specifications
| Symptom complex | neuromuscular |
| Inheritance | autosomal recessive with age-dependent incomplete penetrance; a risk factor associated with DM is detected. |
| Age of onset | ab 8 years |
| Causality | High-risk factor |
| Gene | SOD1 |
| Mutation | G-A |
| Literature | OMIA:000263-9615 |
Haemophilia A (Factor VIII deficiency) - Havanese
Test specifications
| Symptom complex | hematologic |
| Inheritance | X-chromosomal recessive |
| Causality | causally |
| Gene | FVIII |
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 |
