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 |
D-locus d1 (dilution)
Test specifications
Inheritance | Allelic series: D dominant over d1, d2 and d3 |
Gene | MLPH |
Mutation | G-A |
Literature | OMIA:000031-9615 |
Progressive retinal atrophy (prcd-PRA)
Test specifications
Symptom complex | ophthalmic |
Inheritance | autosomal recessive |
Causality | causally |
Gene | PRCD |
Mutation | C-T |
Literature | OMIA:001298-9615 |
Progressive retinal atrophy (cord1/crd4-PRA)
Test specifications
Symptom complex | ophthalmic |
Inheritance | autosomal recessive |
Age of onset | ab 6 months |
Causality | scientifically not clearly clarified |
Gene | RPGRIP1 |
Mutation | INS |
Literature | OMIA:001432-9615 |