General description
includes (15 Euro patent fee): Canine multi-focal retinopathy (CMR1/2/3), Cystinuria, degenerative myelopathy (DM exon 2), Mitochondrial fission encephalopathy (MFE), Progressive retinal atrophy (dom-PRA)
Bullmastiff
Order details
| Test number | 8926 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
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 |
Progressive retinal atrophy (dominant PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal dominant |
| Causality | causally |
| Gene | RHO |
| Mutation | G-C |
| Literature | OMIA:001346-9615 |
Mitochondrial fission encephalopathy (MFE)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | MFF |
| Mutation | COMPLEX |
| Literature | OMIA:002551-9615 |
