Doyne Honeycomb Retinal Dystrophy (DHRD) mutation analysis

Introduction

Doyne Honeycomb Retinal Dystrophy is an autosomal dominant disorder characterised by small round white spots (drusen) involving the posterior pole of the eye, including the areas of the macula and optic disc, appear in early adult life followed by progressive retinal degeneration. Alternative types of referral and variations of disease/symptoms include: Doyne Honeycomb Degeneration of Retina; Malattia Leventinese and Autosomal Dominant Radial Drusen. Screening is limited to the p.(Arg345Trp) mutation in the EGF-Containing Fibulin-like Extracellular Matrix Protein 1 (EFEMP1) gene. This mutation is the only mutation associated with DHRD.

Referral information

Mutation screening is available for affected individuals with a clinical diagnosis of DHRD/dominant Drusen. Pre-symptomatic testing is available in families with a previously identified mutation.

Technical information

Pyrosequencing is used to screen for the p.Arg345Trp mutation in EFEMP1.

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

The p.Arg345Trp mutation is found in 23% of patients referred for EFGMP1 testing. The laboratory is UKAS assessed against ISO 15189 standards.

Referral guidelines

Please see our referral guidelines for more information.

OMIM Number(s) - 126600

Gene(s) - EFEMP1

y