General description
includes: Dry eye curly coat syndrome (CCS), Episodic falling (EF), Macrothrombocytopenia (MTC), MCAD deficiency (MCAD), Myxomatous mitral valve disease (MMVD)
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 | 3-14 working days |
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 |
MCAD deficiency
Test specifications
| Symptom complex | systemic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | ACADM |
| Mutation | COMPLEX |
| Literature | OMIA:002585-9615 |
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 |
