General description
includes: Juvenile brain disease (JBD), Late onset ataxia (LOA) and Spinocerebellar ataxia (SCA)
Jack Russell Terrier, Parson Russell Terrier
Order details
Test number | 8570 |
Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
Test duration | 3-5 working days |
Juvenile brain disease (JBD)
Test specifications
Symptom complex | neurological |
Inheritance | autosomal recessive |
Age of onset | 6-12 weeks |
Causality | causally |
Gene | PITRM1 |
Mutation | DEL |
Literature | OMIA:002324-9615 |
Late onset ataxia (LOA)
Test specifications
Symptom complex | neurological |
Inheritance | autosomal recessive |
Age of onset | 6-12 months |
Causality | causally |
Gene | CAPN1 |
Mutation | C-T |
Literature | OMIA:001820-9615 |