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Eye disorders

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

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.

Last reviewed:23 April 2024