General description
includes (30 Euro patent fee for DM Exon2, EIC): Degenerative myelopathy (DM exon2), Exercise induced collapse (EIC), Glycogen storage disease (GSDIIIa), Progressive retinal atrophy (cord1/crd4-PRA)
Curly Coated Retriever
Order details
| Test number | 8817 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Exercise induced collapse (EIC)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | DNM1 |
| Mutation | C-A |
| Literature | OMIA:001466-9615 |
Glycogen storage disease (GSD IIIa)
Test specifications
| Symptom complex | systemic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | AGL |
| Mutation | DEL |
| Literature | OMIA:000418-9615 |
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 (cord1/crd4-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | ab 6 months |
| Causality | scientifically not clearly clarified |
| Gene | RPGRIP1 |
| Mutation | INS |
| Literature | OMIA:001432-9615 |
