General description
includes the following tests: Progressive retinal atrophy (cord1-PRA), Progressive retinal atrophy (prcd-PRA)*, Progressive retinal atrophy (rcd4-PRA), D-Locus d1 (Dilution), Furnishing
Bolonka Zwetna
Order details
| Test number | 8833 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Progressive retinal atrophy (prcd-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Causality | causally |
| Gene | PRCD |
| Mutation | C-T |
| Literature | OMIA:001298-9615 |
Progressive retinal atrophy (cord1/crd4-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Age of onset | ab 6 months |
| Causality | scientifically not clearly clarified |
| Gene | RPGRIP1 |
| Mutation | INS |
| Literature | OMIA:001432-9615 |
