Disorders


 

Best Vitelliform Macular Dystrophy


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

 

GeneReviewOMIM

GeneLocusProtein
BEST111q12Bestrophin-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.

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