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 |
| Inheritance | autosomal recessive |
| 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 |
| Inheritance | autosomal recessive; the literature describes that 2-20% of PLL carriers (N/PLL) develop PLL in the course of their lives. Carriers therefore have an (albeit low) risk of developing PLL. |
| 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 |
| 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 (prcd-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | PRCD |
| Mutation | C-T |
| Literature | OMIA:001298-9615 |
