Disorders

ABCA4-Related Stargardt Disease 1

Synonym(s): ABCA4-Related Fundus Flavimaculatus, ABCA4-Related Macular Degeneration, Juvenile, ABCA4-Related Macular Dystrophy with Flecks Type 1, ABCA4-Related STGD1

OMIM

Gene	Locus	Protein
ABCA4	1p22	Retinal-specific ATP-binding cassette transporter

Laboratory	Test Method	Prenatal	Carrier *
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia	• Targeted mutation analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
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	• Mutation scanning of the entire coding region • Linkage analysis
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Netherlands Institute for Neuroscience, Molecular Ophthalmogenetics Laboratory - Amsterdam, Netherlands
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
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	• Sequence analysis of select exons • Targeted mutation analysis

^* 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.