General description
includes (15 Euro patent fee for DM Exon2): Collie eye anomaly (CEA)**, Degenerative myelopathy (DM exon 2), Hereditary cataract (HSF4), MDR1-gene variant (MDR1), Brachyuria (stumpy tail), Neuronal ceroid lipofuscinosis (NCL) and Progressive retinal atrophy (prcd-PRA)***
Australian Shepherd, Miniature American Shepherd
Order details
| Test number | 8624 |
| 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 |
Brachyuria (stumpy tail)
Test specifications
| Symptom complex | skeletal |
| Inheritance | autosomal dominant |
| Age of onset | from birth |
| Causality | causally |
| Gene | TBXT |
| Mutation | G-C |
| Literature | OMIA:000975-9615 |
Collie eye anomaly (CEA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | from birth |
| Causality | causally |
| Gene | NHEJ1 |
| Mutation | COMPLEX |
| Literature | OMIA:000218-9615 |
MDR1 gene variant (Ivermectin hypersensitivity)
Test specifications
| Symptom complex | metabolic |
| Inheritance | autosomal recessive; however, carriers with hypersensitivity can also be expected |
| Causality | causally |
| Gene | ABCB1 |
| Mutation | DEL |
| Literature | OMIA:001402-9615 |
Progressive retinal atrophy (prcd-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | PRCD |
| Mutation | C-T |
| Literature | OMIA:001298-9615 |
