General description
enthält:
Akrales Mutilationssyndrom (AMS), Exfoliativer kutaner Lupus erythematodes (ECLE), Junctional epidermolysis bullosa (JEB), Von-Willebrand-Erkrankung Typ 2 (vWD 2)
Deutsch Kurzhaar
Order details
Test number | 8782 |
Sample material | 0,5 ml EDTA Blut, 2x Backenabstrich, 1x Spezialabstrich (eNAT) |
Test duration | 7-14 Werktage |
Junctional Epidermolysis Bullosa (JEB)
Test specifications
Symptom complex | dermatologisch |
Causality | ursächlich |
Gene | LAMA3 |
Mutation | G-A |
Literature | OMIA:001677-9615 |
von Willebrand Erkrankung Typ II (vWD2)
Test specifications
Symptom complex | hämatologisch |
Causality | ursächlich |
Gene | VWF |
Mutation | T-G |
Literature | OMIA:001339-9615 |
Akrales Mutilationssyndrom (AMS)
Test specifications
Symptom complex | neurologisch |
Age of onset | 4 Monate |
Causality | ursächlich |
Gene | GDNF |
Mutation | C-T |
Literature | OMIA:001514-9615 |
Exfoliativer kutaner Lupus erythematodes (ECLE)
Test specifications
Symptom complex | dermatologisch |
Causality | ursächlich |
Gene | UNC93B1 |
Mutation | C-A |
Literature | OMIA:001609-9615 |