General description
includes: Cardiomyopathy with juvenile mortality (CJM), CNS atrophy with cerebellar ataxia (CACA), Spongy degeneration with cerebellar ataxia type 1 and 2 (SDCA1 and SDCA2)
Belgian Shepherd Dog, Dutch Shepherd Dog, Groenendael, Laekenois, Malinois, Tervueren
Order details
| Test number | 8634 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Spongy degeneration with cerebellar ataxia type 2 (SDCA2)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 5-8 weeks |
| Causality | causally |
| Gene | ATP1B2 |
| Mutation | COMPLEX |
| Literature | OMIA:002110-9615 |
Spongy degeneration with cerebellar ataxia type 1 (SDCA1)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 5-8 weeks |
| Causality | causally |
| Gene | KCNJ10 |
| Mutation | T-C |
| Literature | OMIA:002089-9615 |
CNS atrophy with cerebellar ataxia (CACA)
Test specifications
| Symptom complex | neuromuscular |
| Inheritance | autosomal recessive |
| Age of onset | 2 weeks |
| Causality | causally |
| Gene | SELENOP |
| Mutation | COMPLEX |
| Literature | OMIA:002367-9615 |
Cardiomyopathy with juvenile mortality (CJM)
Test specifications
| Symptom complex | cardiologisch |
| Inheritance | autosomal recessive |
| Age of onset | 6-8 weeks |
| Causality | causally |
| Gene | YARS2 |
| Mutation | G-A |
| Literature | OMIA:002256-9615 |
