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 |
Inheritance | autosomal recessive |
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 |
Inheritance | autosomal recessive |
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 |
Inheritance | autosomal recessive |
Age of onset | ab 6 months |
Causality | scientifically not clearly clarified |
Gene | RPGRIP1 |
Mutation | INS |
Literature | OMIA:001432-9615 |