General description
includes: Genetic blood group, Hypertrophic cardiomyopathy (HCM4), Hypokalaemia and Congenital myasthenic syndrome (CMS).
Sphynx
Order details
Test number | 8723 |
Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
Test duration | 7-14 working days |
Congenital myasthenic syndrome (CMS)
Test specifications
Symptom complex | muscular |
Inheritance | autosomal recessive |
Age of onset | 3 weeks |
Causality | causally |
Gene | COLQ |
Mutation | C-T |
Literature | OMIA:001621-9685 |
Hypertrophic cardiomyopathy (HCM4)
Test specifications
Symptom complex | cardiac |
Inheritance | autosomal dominant with incomplete penetrance |
Age of onset | 1-14 years |
Causality | causally |
Gene | ALMS1 |
Mutation | G-C |
Literature | OMIA:002316-9685 |
Hypokalaemia
Test specifications
Symptom complex | muscular |
Causality | causally |
Gene | WNK4 |
Mutation | C-T |
Literature | OMIA:001759-9685 |
Genetic blood group
Test specifications
Symptom complex | hematologic |
Inheritance | Allelische Reihe nach Dominanz: N>c>b |
Causality | causally |
Gene | CMAH |
Mutation | COMPLEX |
Literature | OMIA:000119-9685 |