General description
enthält: Juvenile Enzephalopathie (JBD), Late onset Ataxie (LOA), Spinocerebelläre Ataxie (SCA), Primäre Linsenluxation (PLL) and Degenerative Myelopathie (DM Exon2)
Jack Russell Terrier, Parson Russell Terrier
Order details
Test number | 8571 |
Sample material | 0,5 ml EDTA Blut, 2x Backenabstrich, 1x Spezialabstrich (eNAT) |
Test duration | 3-5 Werktage |
Juvenile Enzephalopathie (JBD)
Test specifications
Symptom complex | neurologisch |
Age of onset | 6-12 Wochen |
Causality | ursächlich |
Gene | PITRM1 |
Mutation | DEL |
Literature | OMIA:002324-9615 |
Primäre Linsenluxation (PLL)
Test specifications
Symptom complex | ophtalmisch |
Age of onset | 3-8 Jahre |
Causality | ursächlich |
Gene | ADAMTS17 |
Mutation | G-A |
Literature | OMIA:000588-9615 |
Late onset Ataxie (LOA)
Test specifications
Symptom complex | neurologisch |
Age of onset | 6-12 Monate |
Causality | ursächlich |
Gene | CAPN1 |
Mutation | C-T |
Literature | OMIA:001820-9615 |
Degenerative Myelopathie (DM) Exon 2
Test specifications
Symptom complex | neuromuskulär |
Age of onset | ab 8 Jahre |
Causality | Hochrisikofaktor |
Gene | SOD1 |
Mutation | G-A |
Literature | OMIA:000263-9615 |