General description
enthält: Larynxparalyse mit Polyneuropathie Typ 3 (LPPN3), Leonberger Polyneuropathie 1 (LPN1), Leonberger Polyneuropathie 2 (LPN2), Leukoenzephalomyelopathie (LEMP)
Leonberger
Order details
Test number | 8286 |
Sample material | 0,5 ml EDTA Blut, 2x Backenabstrich, 1x Spezialabstrich (eNAT) |
Test duration | 7-14 Werktage |
Leonberger Polyneuropathie 2 (LPN2)
Test specifications
Symptom complex | neurologisch |
Age of onset | 6 Jahre |
Causality | ursächlich |
Gene | GJA9 |
Mutation | DEL |
Literature | OMIA:002119-9615 |
Larynxparalyse mit Polyneuropathie Typ 3 (LPPN3)
Test specifications
Symptom complex | neurologisch |
Causality | ursächlich |
Gene | CNTNAP1 |
Mutation | C-T |
Literature | OMIA:002301-9615 |
Leonberger Polyneuropathie 1 (LPN1)
Test specifications
Symptom complex | neurologisch |
Age of onset | unterschiedlich |
Causality | ursächlich |
Gene | ARHGEF10 |
Mutation | DEL |
Literature | OMIA:001917-9615 |