Disorders

Best Vitelliform Macular Dystrophy

Synonym(s): Best Macular Dystrophy, Vitelliform Macular Dystrophy Type 2

Gene	Locus	Protein
BEST1	11q12	Bestrophin-1

Laboratory	Test Method	Prenatal	Carrier *
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia	• Targeted mutation analysis
CeGaT GmbH - Tuebingen, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
Ghent University Hospital, DNA Laboratory - Ghent, Belgium
Institute of Human Genetics, Ophthalmogenetic Diagnostics Group - Regensburg, Germany
Netherlands Institute for Neuroscience, Molecular Ophthalmogenetics Laboratory - Amsterdam, Netherlands
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Rudbeck Laboratory - Uppsala University Hospital, Clinical Genetics - Uppsala, Sweden
University of California-San Diego, Ophthalmic Molecular Diagnostic Laboratory - La Jolla, CA, USA
University of Iowa, John and Marcia Carver Nonprofit Genetic Testing Laboratory - Iowa City, IA, USA

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.