General description
includes (15 Euro patent fee for DM Exon2): Brachyuria (stumpy tail), Chondrodysplasia (CDPA) and -dystrophia (CDDY) (IVDD risk), Degenerative myelopathy (DM exon2), Progressive retinal atrophy (rcd3-PRA) and von Willebrand disease type I (vWD1)
Cardigan Welsh Corgi, Pembroke Welsh Corgi, Welsh Corgi (Cardigan/Pembroke)
Order details
| Test number | 8661 |
| 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 |
Brachyuria (stumpy tail)
Test specifications
| Symptom complex | skeletal |
| Inheritance | autosomal dominant |
| Age of onset | from birth |
| Causality | causally |
| Gene | TBXT |
| Mutation | G-C |
| Literature | OMIA:000975-9615 |
Chondrodysplasia (CDPA) and -dystrophia (CDDY) (IVDD risk)
Test specifications
| Symptom complex | skeletal |
| Inheritance | dominant for CDPA, semi-dominant for CDDY-related leg length, dominant for IVDD risk |
| Causality | causally |
| Gene | FGF4 |
| Mutation | COMPLEX |
| Literature | OMIA:002542-9615 |
Progressive retinal atrophy (rcd3-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 6-16 weeks |
| Causality | causally |
| Gene | PDE6A |
| Mutation | DEL |
| Literature | OMIA:001314-9615 |
von-Willebrand disease type I (vWD1)
Test specifications
| Symptom complex | hematologic |
| Inheritance | autosomal dominant with incomplete penetrance |
| Causality | causally |
| Gene | VWF |
| Mutation | G-A |
| Literature | OMIA:001057-9615 |
