General description
includes: Genetic blood group, Hypertrophic cardiomyopathy (HCM1 and HCM3), Polycystic kidney disease (PKD) and Progressive retinal atrophy (pd-PRA)
Ragdoll
Order details
| Test number | 8719 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-14 working days |
Progressive retinal atrophy (pd-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 5 weeks |
| Causality | causally |
| Gene | AIPL1 |
| Mutation | C-T |
| Literature | OMIA:001222-9685 |
Polycystic kidney disease (PKD)
Test specifications
| Symptom complex | nephrological |
| Inheritance | autosomal dominant |
| Age of onset | 8 months |
| Causality | causally |
| Gene | PKD1 |
| Mutation | C-A |
| Literature | OMIA:000807-9685 |
Hypertrophic cardiomyopathy (HCM1)
Test specifications
| Symptom complex | cardiac |
| Inheritance | autosomal dominant |
| Causality | causally |
| Gene | MYBPC3 |
| Mutation | C-G |
| Literature | OMIA:000515-9685 |
Hypertrophic cardiomyopathy (HCM3)
Test specifications
| Symptom complex | cardiac |
| Inheritance | autosomal dominant with incomplete penetrance |
| Causality | causally |
| Gene | MYBPC3 |
| Mutation | G-A |
| Literature | OMIA:000515-9685 |
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 |
