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 |
