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 |
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 |
Causality | causally |
Gene | FVIII |
Chondrodysplasia (CDPA) and -dystrophia (CDDY) (IVDD risk)
Test specifications
Symptom complex | skeletal |
Causality | causally |
Gene | FGF4 |
Mutation | COMPLEX |
Literature | OMIA:002542-9615 |