General description
includes: Fanconi syndrome, Progressive retinal atrophy (Bas-PRA1), Pyruvate kinase deficiency (PK)
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 |
