General description
Irish Soft Coated Wheaten Terrier
Order details
| Test number | 8663 |
| 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 |
Paroxysomal dyskinesia (PxD)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 2 years |
| Causality | causally |
| Gene | PIGN |
| Mutation | C-T |
| Literature | OMIA:002084-9615 |
Protein losing nephropathy (PLN)
Test specifications
| Symptom complex | nephrological |
| Age of onset | middle age |
| Causality | causally |
| Gene | KIRREL2, NPHS1 |
| Mutation | G-C, G-A |
| Literature | OMIA:001326-9615 |
