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 |