Introduction
Macular Dystrophy is characterised by a loss of central vision due to the degeneration of the central retinal area or Macular. Between 7 and 20% of Macular Dystrophy is caused by mutations in the PRPH2 (RDS/Peripherin) gene.
Referral information
Mutation screening is available for affected individuals with macular dystrophy. Pre-symptomatic and carrier testing are available in families with a previously identified mutation. Confirmation of mutations identified in research laboratories.
Price & reporting times
Test | Price NHS (£) | Price non-NHS (£) | TRT (calendar days) |
Mutation scanning | POA | POA | 56 |
Single mutation test | POA | POA | 28 |
Urgent/Predictive single mutation test | POA | POA | 14 |
Test validation & quality assurance - information for users
Mutations are found in 25% of cases referred for RDS/Peripherin screening. The laboratory is UKAS assessed against ISO 15189 standards.
Sample requirements
4ml EDTA blood sample
Referral guidelines
Please see our referral guidelines for more information.
OMIM Number(s) - 169150
Gene(s) - RDS/PRPH2