General description
includes:
Acral mutilation syndrome (AMS), Exfoliative cutaneous lupus erythematosus (ECLE), Junctional epidermolysis bullosa (JEB), von Willebrand disease type 2 (vWD 2)
German Short-haired Pointing Dog
Order details
| Test number | 8782 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Exfoliative cutaneous lupus erythematosus (ECLE)
Test specifications
| Symptom complex | dermatologic |
| Causality | causally |
| Gene | UNC93B1 |
| Mutation | C-A |
| Literature | OMIA:001609-9615 |
Junctional epidermolysis bullosa (JEB)
Test specifications
| Symptom complex | dermatologic |
| Causality | causally |
| Gene | LAMA3 |
| Mutation | G-A |
| Literature | OMIA:001677-9615 |
von-Willebrand disease type II (vWD 2)
Test specifications
| Symptom complex | hematologic |
| Causality | causally |
| Gene | VWF |
| Mutation | T-G |
| Literature | OMIA:001339-9615 |
Acral mutilation syndrome (ARDS)
Test specifications
| Symptom complex | neurological |
| Age of onset | 4 months |
| Causality | causally |
| Gene | GDNF |
| Mutation | C-T |
| Literature | OMIA:001514-9615 |
