General description
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 |