General description
includes (15 euro patent fee for DM exon 2): Degenerative myelopathy (DM exon 2), Neuronal ceroid lipofuscinosis (NCL), Primary lens luxation (PLL), Pituitary dwarfism and Progressive retinal atrophy (rcd4-PRA).
Tibetan Terrier
Order details
| Test number | 8679 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Degenerative myelopathy exon 2 (DM exon 2)
Test specifications
| Symptom complex | neuromuscular |
| Age of onset | ab 8 years |
| Causality | High-risk factor |
| Gene | SOD1 |
| Mutation | G-A |
| Literature | OMIA:000263-9615 |
Primary lens luxation (PLL)
Test specifications
| Symptom complex | ophthalmic |
| Age of onset | 3-8 years |
| Causality | causally |
| Gene | ADAMTS17 |
| Mutation | G-A |
| Literature | OMIA:000588-9615 |
Progressive retinal atrophy (PRA3)
Test specifications
| Symptom complex | ophthalmic |
| Age of onset | 5 years |
| Causality | causally |
| Gene | FAM161A |
| Mutation | INS |
| Literature | OMIA:001918-9615 |
Progressive retinal atrophy (rcd4-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Age of onset | 5-12 years |
| Causality | causally |
| Gene | PCARE |
| Mutation | INS |
| Literature | OMIA:001575-9615 |
