General description
includes:
Chondrodysplasia and -dystrophy (CDDY/CDPA, IVDD risk), L-2-hydroxyglutaric aciduria (L2HGA), Progressive retinal atrophy*** (prcd-PRA) and Subacute necrotising encephalopathy (SNE)
Yorkshire Terrier
Order details
Test number | 8757 |
Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
Test duration | 7-14 working days |
Subacute necrotizing encephalopathy (SNE)
Test specifications
Symptom complex | neurological |
Age of onset | 0-12 months |
Causality | causally |
Gene | SLC19A3 |
Mutation | INS |
Literature | OMIA:001097-9615 |
Primary lens luxation (PLL)
Test specifications
Symptom complex | ophthalmic |
Age of onset | 3-8 years |
Causality | causally |
Gene | ADAMTS17 |
Mutation | G-A |
Literature | OMIA:000588-9615 |
Chondrodysplasia (CDPA) and -dystrophia (CDDY) (IVDD risk)
Test specifications
Symptom complex | skeletal |
Causality | causally |
Gene | FGF4 |
Mutation | COMPLEX |
Literature | OMIA:002542-9615 |
Progressive retinal atrophy (prcd-PRA)
Test specifications
Symptom complex | ophthalmic |
Causality | causally |
Gene | PRCD |
Mutation | C-T |
Literature | OMIA:001298-9615 |