General description
includes (15 Euro patent fee for DM Exon2): Cystinuria, Degenerative myelopathy (DM exon 2), Hyperurikosuria, Neuronal ceroid lipofuscinosis (NCL), Progressive retinal atrophy (crd1-PRA)
American Bully
Order details
| Test number | 8856 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Hyperuricosuria (HUU/SLC)
Test specifications
| Symptom complex | urological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | SLC2A9 |
| Mutation | G-T |
| Literature | OMIA:001033-9615 |
Degenerative myelopathy exon 2 (DM exon 2)
Test specifications
| Symptom complex | neuromuscular |
| Inheritance | autosomal recessive with age-dependent incomplete penetrance; a risk factor associated with DM is detected. |
| Age of onset | ab 8 years |
| Causality | High-risk factor |
| Gene | SOD1 |
| Mutation | G-A |
| Literature | OMIA:000263-9615 |
Progressive retinal atrophy (crd1-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 6 months |
| Causality | causally |
| Gene | PDE6B |
| Mutation | DEL |
| Literature | OMIA:001674-9615 |
Neuronal ceroid lipifuscinosis (NCL) - American Staffordshire Terrier
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | ARSG |
| Mutation | G-A |
| Literature | OMIA:001503-9615 |
