General description
includes (15 Euro patent fee for DM Exon2): Degenerative myelopathy (DM exon 2), Dry eye curly coat syndrome (CCS), Episodic falling (EF), Macrothrombocytopenia (MTC), Muscular dystrophia (MD)
Cavalier King Charles Spaniel
Order details
| Test number | 8653 |
| 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 |
Episodic falling (EF)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 14 weeks - 4 years |
| Causality | causally |
| Gene | BCAN |
| Mutation | COMPLEX |
| Literature | OMIA:001592-9615 |
Dry eye curly coat syndrome (CCS)
Test specifications
| Symptom complex | dermatologic |
| Inheritance | autosomal recessive |
| Age of onset | from birth |
| Causality | causally |
| Gene | FAM83H |
| Mutation | DEL |
| Literature | OMIA:001683-9615 |
