General description
includes (15 Euro patent fee for DM Exon2): Degenerative myelopathy (exon 2), Pituitary dwarfism, PRA with neurodegeneration (PCYT2 deficiency)
Saarloos Wolfhond
Order details
| Test number | 8952 |
| 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 |
| 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 with neurodegeneration (PCYT2 deficiency)
Test specifications
| Symptom complex | neurological, ophthalmic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | PCYT2 |
| Mutation | A-G |
