Disorders

Cone-Rod Dystrophy 3

Synonym(s): CORD3

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
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
Netherlands Institute for Neuroscience, Molecular Ophthalmogenetics Laboratory - Amsterdam, Netherlands	• Mutation scanning of the entire coding region
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

^* 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.