General description
includes: Canine leukocyte adhesion deficiency (CLAD), Globoid cell leukodystrophy (Krabbe disease), Progressive retinal atrophy (rcd1-PRA), Progressive retinal atrophy (rcd4-PRA).
Irish Red Setter, Irish Red and White Setter
Order details
| Test number | 8638 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Canine leucocyte adhesion deficiency (CLAD)
Test specifications
| Symptom complex | immunological |
| Inheritance | autosomal recessive |
| Age of onset | 8-12 weeks |
| Causality | causally |
| Gene | ITGB2 |
| Mutation | C-G |
| Literature | OMIA:000595-9615 |
Progressive retinal atrophy (rcd4-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 5-12 years |
| Causality | causally |
| Gene | PCARE |
| Mutation | INS |
| Literature | OMIA:001575-9615 |
Progressive retinal atrophy (rcd1-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | PDE6B |
| Mutation | C-T |
| Literature | OMIA:000882-9615 |
