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).
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.
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)|
|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) - 193220
Gene(s) - BEST1