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 |
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 |
Primary lens luxation (PLL)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive; the literature describes that 2-20% of PLL carriers (N/PLL) develop PLL in the course of their lives. Carriers therefore have an (albeit low) risk of developing PLL. |
| Age of onset | 3-8 years |
| Causality | causally |
| Gene | ADAMTS17 |
| Mutation | G-A |
| Literature | OMIA:000588-9615 |
Progressive retinal atrophy (rcd4-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 5-12 years |
| Causality | causally |
| Gene | PCARE |
| Mutation | INS |
| Literature | OMIA:001575-9615 |
Progressive retinal atrophy (prcd-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | PRCD |
| Mutation | C-T |
| Literature | OMIA:001298-9615 |
