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| Eye diseases | Genes |
| Achromatopsia* | < 10 genes |
| Bardet Biedl syndrome (BBS)* | > 20 genes |
| Best disease | BEST1, ELOVL4 |
| Cataract | > 100 genes |
| Choroideremia, tapetoretinal degeneration* | CHM / REP-1 / TCD |
| Coats disease* | NDP |
| Cone rod dystrophies | > 30 genes |
| Congenital stationary night blindness, complete and incomplete form (CSNB) | > 10 genes |
| Erosive vitreoretinopathy (Stickler syndrome, Wagner syndrome) | < 10 genes |
| Exudative vitreoretinopathy (EVR)* | < 10 genes |
| Leber congenital amaurosis (LCA)* | > 20 genes |
| Macular dystrophy* | > 10 genes |
| Malattia leventinese | EFEMP1 |
| Norrie Disease (ND), Norrie syndrome* | NDP |
| Optic atrophy | > 20 genes |
| Retinal dystrophy and degeneration (dominant or recessive) | > 200 genes |
| Retinitis pigmentosa (RP), dominant or recessive, autosomal or X-linked* | > 90 genes |
| Rod cone dystrophy | > 100 genes |
| Stargardt disease (STGD), Fundus flavimaculatus* | ABCA4 |
| Usher syndrome | > 10 genes |
| Wagner disease, vitreoretinal degeneration* | CSPG2 / VCAN / Versican |
| Neurologic and neuromuscular diseases | Genes |
| Huntington disease (HD)* | HTT / HD / IT15 |
| Spinocerebellar ataxia (SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA17)* | ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8, TBP |
Notes:
*These tests must be covered or reimbursed by the health insurance companies according to the ´Federal List of Ananlyses´
