General description
includes: Cerebellar degeneration and myositis complex (CDMC), Chondrodysplasia (CDPA) and -dystrophia (CDDY) (IVDD risk), Cleft lip/palate and syndactyly (CLPS + CP1), Collie eye anomalie* (CEA), Progressive retinal atrophy (prcd-PRA)
Nova Scotia Duck Tolling Retriever
Order details
| Test number | 8812 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Cerebellar degeneration and myositis complex (CDMC)
Test specifications
| Symptom complex | neuromuscular |
| Inheritance | autosomal recessive |
| Age of onset | 10 weeks to 6 months |
| Causality | causally |
| Gene | SLC25A12 |
| Mutation | G-A |
| Literature | OMIA:002294-9615 |
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 |
Collie eye anomaly (CEA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | from birth |
| Causality | causally |
| Gene | NHEJ1 |
| Mutation | COMPLEX |
| Literature | OMIA:000218-9615 |
Cleft lip/palate and syndactyly (CLPS)
Test specifications
| Symptom complex | skeletal |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | ADAMTS20 |
| Mutation | DEL |
| Literature | OMIA:001140-9615 |
Progressive retinal atrophy (prcd-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | PRCD |
| Mutation | C-T |
| Literature | OMIA:001298-9615 |
