Macular Dystrophy

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.

Technical information

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)
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