General description
includes: Degenerative myelopathy (exon 2), Digital hyperkeratosis (DH), Hyperurikosuria (SLC), MDR1 gene variant (Ivermectin hypersensibility), von-Willebrand disease type I (vWD 1) and Furnishing
Kromfohrländer
Order details
| Test number | 8755 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Hyperuricosuria (HUU/SLC)
Test specifications
| Symptom complex | urological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | SLC2A9 |
| Mutation | G-T |
| Literature | OMIA:001033-9615 |
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 |
MDR1 gene variant (Ivermectin hypersensitivity)
Test specifications
| Symptom complex | metabolic |
| Inheritance | autosomal recessive; however, carriers with hypersensitivity can also be expected |
| Causality | causally |
| Gene | ABCB1 |
| Mutation | DEL |
| Literature | OMIA:001402-9615 |
von-Willebrand disease type I (vWD1)
Test specifications
| Symptom complex | hematologic |
| Inheritance | autosomal dominant with incomplete penetrance |
| Causality | causally |
| Gene | VWF |
| Mutation | G-A |
| Literature | OMIA:001057-9615 |
