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 - English Cocker Spaniel, English Pointer, English Springer Spaniel, French Spaniel, German Shorthaired Pointer
In breeds such as German Shorthaired Pointer, English Pointer, English Cocker Spaniel, English Springer Spaniel, and French Spaniel, symptoms typically appear around four months of age, when puppies begin licking, biting, or injuring their paws and toes. Despite this, proprioception, motor function, and spinal reflexes remain unaffected. Some affected puppies only show pain insensitivity in the lower limbs without self-injury, making diagnosis more challenging.
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 |
