General description
Weimaraner
Order details
Test number | 8813 |
Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
Test duration | 7-14 working days |
Spinal dysraphism (NTD)
Test specifications
Symptom complex | morphological |
Inheritance | autosomal recessive |
Causality | causally |
Gene | NKX2-8 |
Mutation | COMPLEX |
Literature | OMIA:000938-9615 |
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 |