General description
Basenji
Order details
Test number | 8815 |
Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
Test duration | 7-14 working days |
Fanconi syndrome
Test specifications
Symptom complex | nephrological |
Inheritance | autosomal recessive |
Age of onset | 4-8 years |
Causality | causally |
Gene | FAN1 |
Mutation | COMPLEX |
Literature | OMIA:002683-9615 |
Progressive retinal atrophy (Bas-PRA1)
Test specifications
Symptom complex | ophthalmic |
Inheritance | autosomal recessive |
Age of onset | 5 years |
Causality | causally |
Gene | SAG |
Mutation | T-C |
Literature | OMIA:001876-9615 |