General description
includes (15 Euro patent fee): Canine multi-focal retinopathy (CMR3), Degenerative myelopathy (DM exon 2), Glycogen storage disease (GSDII) (Pompe disease), progressive retinal atrophy (prcd-PRA)
Finnish Lapponian Dog, Lapponian Herder, Swedish Lapphund
Order details
| Test number | 8249 |
| 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 |
Glycogen storage disease (GSD II) (Pompe disease)
Test specifications
| Symptom complex | systemic |
| Inheritance | autosomal recessive |
| Age of onset | from birth |
| Causality | causally |
| Gene | GAA |
| Mutation | C-T |
| Literature | OMIA:000419-9615 |
Progressive retinal atrophy (prcd-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | PRCD |
| Mutation | C-T |
| Literature | OMIA:001298-9615 |
