General description
includes: Acral mutilation syndrome (AMS), Familial nephropathy*** (FN), Progressive retinal atrophy*** (prcd-PRA)
American Cocker Spaniel, English Cocker Spaniel
Order details
Test number | 8662 |
Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
Test duration | 7-14 working days |
Acral mutilation syndrome (ARDS)
Test specifications
Symptom complex | neurological |
Inheritance | autosomal recessive |
Age of onset | 4 months |
Causality | causally |
Gene | GDNF |
Mutation | C-T |
Literature | OMIA:001514-9615 |
Progressive retinal atrophy (prcd-PRA)
Test specifications
Symptom complex | ophthalmic |
Inheritance | autosomal recessive |
Causality | causally |
Gene | PRCD |
Mutation | C-T |
Literature | OMIA:001298-9615 |
Familial nephropathy (FN) - English Cocker Spaniel, Welsh Springer Spaniel
Test specifications
Symptom complex | nephrological |
Inheritance | autosomal recessive |
Age of onset | 6 months- 2 years |
Causality | causally |
Gene | COL4A4 |
Mutation | T-A |
Literature | OMIA:002618-9615 |