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.

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

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