General description
enthält (15 Euro Patentgebühr für DM Exon2): Degenerative Myelopathie (DM Exon2), Hypophysärer Zwergwuchs, PRA mit Neurodegeneration (PCYT2-Defizienz)
Saarloos Wolfhond
Order details
| Test number | 8952 |
| Sample material | 0,5 ml EDTA Blut, 2x Backenabstrich, 1x Spezialabstrich (eNAT) |
| Test duration | 7-14 Werktage |
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 |
