General description
enthält folgende Tests: Progressive Retinaatrophie (cord1-PRA), Progressive Retinaatrophie (prcd-PRA)**, Progressive Retinaatrophie (rcd4-PRA), D-Lokus d1 (Farbverdünnung), Furnishing
Bolonka Zwetna
Order details
| Test number | 8833 |
| Sample material | 0,5 ml EDTA Blut, 2x Backenabstrich, 1x Spezialabstrich (eNAT) |
| Test duration | 7-14 Werktage |
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 |
