General description
enthält:
Charcot-Marie-Tooth Neuropathie (CMT), Müller-Gang Persistenz Syndrom (PMDS), Mykobakterium avium Komplex Sensitivität (MAC), Myotonia
congenita, Progressive Retinaatrophie (Typ B1-PRA, HIVEP3) und Spondylokostale Dysostose (Comma Defect)
Zwergschnauzer
Order details
Test number | 8619 |
Sample material | 0,5 ml EDTA Blut, 2x Backenabstrich, 1x Spezialabstrich (eNAT) |
Test duration | 7-14 Werktage |
Spondylocostale Dysostose (Comma Defect)
Test specifications
Symptom complex | skeletal |
Age of onset | ab Geburt |
Causality | ursächlich |
Gene | HES7 |
Mutation | DEL |
Literature | OMIA:001944-9615 |
Mykobakterium avium Komplex Sensitivität (MAC)
Test specifications
Symptom complex | immunologisch |
Age of onset | 1-8 Monate |
Causality | ursächlich |
Gene | CARD9 |
Mutation | DEL |
Müller-Gang Persistenz Syndrom (PMDS)
Test specifications
Symptom complex | urologisch |
Age of onset | ab Geburt |
Causality | ursächlich |
Gene | AMHR2 |
Mutation | G-A |
Literature | OMIA:002775-9615 |
Progressive Retinaatrophie (Typ B1-PRA, HIVEP3)
Test specifications
Symptom complex | ophtalmisch |
Causality | ursächlich |
Gene | HIVEP3 |
Mutation | G-A |
Literature | OMIA:001311-9615 |