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Eye disorders

The laboratory provides the following services (R codes relate to the NHS England National Genomic Test Directory).

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.

Last reviewed:02 August 2021