General description
enthält: Genetische Blutgruppe, congenitales myasthenes Syndrom (CMS), Hypertrophe Kardiomyopathie (HCM4) und Hypokaliämie.
Sphynx
Order details
Test number | 8723 |
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 |
Hypertrophe Kardiomyopathie (HCM4)
Test specifications
Symptom complex | cardial |
Age of onset | 1-14 Jahre |
Causality | ursächlich |
Gene | ALMS1 |
Mutation | G-C |
Literature | OMIA:002316-9685 |
Hypokaliämie
Test specifications
Symptom complex | muskulär |
Causality | ursächlich |
Gene | WNK4 |
Mutation | C-T |
Literature | OMIA:001759-9685 |
Congenitales myasthenes Syndrom (CMS)
Test specifications
Symptom complex | muskulär |
Age of onset | 3 Wochen |
Causality | ursächlich |
Gene | COLQ |
Mutation | C-T |
Literature | OMIA:001621-9685 |