General description
includes: Juvenile brain disease (JBD), Late onset Ataxie (LOA), Spinocerebellar ataxia (SCA), Primary lens luxation (PLL) and Degenerative myelopathy (exon 2)
Jack Russell Terrier, Parson Russell Terrier
Order details
Test number | 8571 |
Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
Test duration | 3-5 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 |
Primary lens luxation (PLL)
Test specifications
Symptom complex | ophthalmic |
Age of onset | 3-8 years |
Causality | causally |
Gene | ADAMTS17 |
Mutation | G-A |
Literature | OMIA:000588-9615 |
Juvenile brain disease (JBD)
Test specifications
Symptom complex | neurological |
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 |
Age of onset | 6-12 months |
Causality | causally |
Gene | CAPN1 |
Mutation | C-T |
Literature | OMIA:001820-9615 |