General description
includes: Acral mutilation syndrome (AMS), Dyserythropoietic anemia and myopathy (DAMS), Familial nephropathy (FN), Hypomyelination / Shaking Puppy Syndrome (SPS), Fucosidosis, Phosphofructokinase deficiency (PFKD), Progressive retinal atrophy (cord1-PRA)
English Springer Spaniel
Order details
| Test number | 8660 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Fucosidosis
Test specifications
| Symptom complex | neurological |
| Age of onset | 18 months - 4 years |
| Causality | causally |
| Gene | FUCA1 |
| Mutation | DEL |
| Literature | OMIA:000396-9615 |
Acral mutilation syndrome (ARDS)
Test specifications
| Symptom complex | neurological |
| Age of onset | 4 months |
| Causality | causally |
| Gene | GDNF |
| Mutation | C-T |
| Literature | OMIA:001514-9615 |
Progressive retinal atrophy (cord1/crd4-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Age of onset | ab 6 months |
| Causality | scientifically not clearly clarified |
| Gene | RPGRIP1 |
| Mutation | INS |
| Literature | OMIA:001432-9615 |
