NHSE funded test referrals should be in accordance with the National Genomic Test Directory for rare disease and meet eligibility criteria: National Genomic Test Directory - NHS England.
- R31 Bilateral congenital or childhood onset cataracts
- R32 Retinal disorders
- R33.2 Possible X-linked retinitis pigmentosa (gene panel not RPGR ORF15)
- R34 Sorsby retinal dystrophy
- R35 Doyne retinal dystrophy
- R36 Structural eye disease
- R38 Aniridia
- R39 Albinism or congenital nystagmus
- R41 Optic neuropathy (HSS for Wolfram only)
- R262 Corneal dystrophy
- R42 Leber hereditary optic neuropathy
Testing for previously identified familial variants, as clinically appropriate, is available.
