General description
includes: Alpha-Mannosidosis (AMD), genetic blood group testing, Polycystic kidney disease (PDK) and Progressive retinal atrophy (pd-PRA)
Persian
Order details
| Test number | 8713 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 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 |
Alpha-Mannosidosis (AMD)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | MAN2B1 |
| Mutation | DEL |
| Literature | OMIA:000625-9685 |
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 |
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 |
