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.
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.
All coding exons of the RDS/PRPH2 gene are screened for mutations using Next generation sequencing technology with all bases covered to 50x read depth, and confirmed using bi-directional Sanger sequencing. A proportion of missense changes cannot be classified in which case we may request further family studies in order to assist in the interpretation.
Price & reporting times
|Test||Price NHS (£)||Price non-NHS (£)||TRT (calendar days)|
|Single mutation test||POA||POA||28|
|Urgent/Predictive single mutation test||POA||POA||14|
Test validation & quality assurance - information for users
4ml EDTA blood sample
Please see our referral guidelines for more information.
OMIM Number(s) - 169150
Gene(s) - RDS/PRPH2