Bestrophinopathy

Introduction

The bestrophinopathies are a group of inherited retinal dystrophies due to mutations in BEST1 and characterised by reduced vision and an early and significant reduction in the electro-oculogram (EOG) light rise. Diseases attributable to BEST1 mutations include Best disease or vitelliform macular dystrophy (VMD) and autosomal recessive bestrophinopathy (ARB).

Referral information

Mutation screening of the BEST1 gene is available for affected individuals. Pre-symptomatic, carrier testing and prenatal diagnosis are available in families with a previously identified mutation. Confirmation of mutations identified in research laboratories.

Technical information

All coding exons of the BEST1 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.

Price & reporting times

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
Prenatal diagnosis	POA	POA	3

Test validation & quality assurance - information for users

It is currently not possible to predict what proportion of retinal dystrophy is attributable to mutations in this gene. 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) - 193220

Gene(s) - BEST1