General description
includes: Acatalasamia, Imerslund-Gräsbeck syndrome (IGS), Factor 7 deficiency, Musladin-Lueke syndrome (MLS), Neonatal cortical cerebellar abiotrophy (NCCD), Osteogenesis imperfecta (brittle-bone disease), Pyruvate kinase deficiency (PK) and Primary open angle glaucoma (POAG)
Beagle
Order details
| Test number | 8620 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Factor VII deficiency (F7)
Test specifications
| Symptom complex | hematologic |
| Causality | causally |
| Gene | F7 |
| Mutation | G-A |
| Literature | OMIA:000361-9615 |
Musladin-Lueke syndrome (MLS)
Test specifications
| Symptom complex | skeletal |
| Age of onset | 2-4 months |
| Causality | causally |
| Gene | ADAMTSL2 |
| Mutation | C-T |
| Literature | OMIA:001509-9615 |
