General description
enthält (15 Euro Patentgebühr für DM Exon2): Cystinurie, Degenerative Myelopathie (DM Exon2), Neuronale Ceroidlipofuszinose (NCL), Primäre Linsenluxation (PLL), Progressive Retinaatrophie*** (prcd-PRA) Partnerlabor, Progressive Retinaatrophie (rcd4-PRA)
Australian Cattle Dog
Order details
Test number | 8658 |
Sample material | 0,5 ml EDTA Blut, 2x Backenabstrich, 1x Spezialabstrich (eNAT) |
Test duration | 7-14 Werktage |
Progressive Retinaatrophie (rcd4-PRA)
Test specifications
Symptom complex | ophtalmisch |
Age of onset | 5-12 Jahren |
Causality | ursächlich |
Gene | PCARE |
Mutation | INS |
Literature | OMIA:001575-9615 |
Progressive Retinaatrophie (prcd-PRA)
Test specifications
Symptom complex | ophtalmisch |
Causality | ursächlich |
Gene | PRCD |
Mutation | C-T |
Literature | OMIA:001298-9615 |
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 |
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 |