General description
enthält (15 Euro Patentgebühr für DM Exon2): Brachyurie, Degenerative Myelopathie (DM Exon2), Neuroaxonale Dystrophie (NAD), Progressive Retinaatrophie (eo-PRA), Progressive Retinaatrophie*** (prcd-PRA) (Partnerlabor), Congenitale Hypothyreose (CHG)
Spanish Water Dog
Order details
| Test number | 8287 |
| Sample material | 0,5 ml EDTA Blut, 2x Backenabstrich, 1x Spezialabstrich (eNAT) |
| Test duration | 7-14 Werktage |
Degenerative myelopathy exon 2 (DM exon 2)
Test specifications
| Symptom complex | neuromuscular |
| Inheritance | autosomal recessive with age-dependent incomplete penetrance; a risk factor associated with DM is detected. |
| Age of onset | ab 8 years |
| Causality | High-risk factor |
| Gene | SOD1 |
| Mutation | G-A |
| Literature | OMIA:000263-9615 |
Brachyuria (stumpy tail)
Test specifications
| Symptom complex | skeletal |
| Inheritance | autosomal dominant |
| Age of onset | from birth |
| Causality | causally |
| Gene | TBXT |
| Mutation | G-C |
| Literature | OMIA:000975-9615 |
Progressive retinal atrophy (prcd-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | PRCD |
| Mutation | C-T |
| Literature | OMIA:001298-9615 |
