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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