General description
enthält: genetische Blutgruppe, Gangliosidose, Head Defect und Hypokaliämie
Burma
Order details
Test number | 8715 |
Sample material | 0,5 ml EDTA Blut, 2x Backenabstrich, 1x Spezialabstrich (eNAT) |
Test duration | 7-14 Werktage |
genetische Blutgruppenbestimmung
Test specifications
Symptom complex | hämatologisch |
Causality | ursächlich |
Gene | CMAH |
Mutation | COMPLEX |
Literature | OMIA:000119-9685 |
Head Defect
Test specifications
Symptom complex | skeletal |
Causality | ursächlich |
Gene | ALX1 |
Mutation | DEL |
Literature | OMIA:001551-9685 |
Gangliosidose (GM2)
Test specifications
Symptom complex | neurologisch |
Age of onset | 3 Monate |
Causality | ursächlich |
Gene | HEXB |
Mutation | DEL |
Literature | OMIA:001462-9685 |
Hypokaliämie
Test specifications
Symptom complex | muskulär |
Causality | ursächlich |
Gene | WNK4 |
Mutation | C-T |
Literature | OMIA:001759-9685 |