General description
enthält (15 Euro Patentgebühr für DM Exon2): Degenerative Myelopathie (DM Exon2), Neonatale Enzephalopathie (NEWS), Progressive Retinaatrophie*** (prcd-PRA) (Partnerlabor), Progressive Retinaatrophie (rcd4-PRA), von Willebrand Erkrankung Typ I (vWD 1)
Labradoodle, Pudel, Toy Pudel, Zwergpudel
Order details
Test number | 8621 |
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 |
von Willebrand Erkrankung Typ I (vWD1)
Test specifications
Symptom complex | hämatologisch |
Causality | ursächlich |
Gene | VWF |
Mutation | G-A |
Literature | OMIA:001057-9615 |
Progressive Retinaatrophie (prcd-PRA)
Test specifications
Symptom complex | ophtalmisch |
Causality | ursächlich |
Gene | PRCD |
Mutation | C-T |
Literature | OMIA:001298-9615 |
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 |
Neonatale Enzephalopathie (NEWS)
Test specifications
Symptom complex | neurologisch |
Age of onset | ab Geburt |
Causality | ursächlich |
Gene | ATF2 |
Mutation | A-C |
Literature | OMIA:001471-9615 |