Disorders

ATP7A-Related Copper Transport Disorders

Gene	Locus	Protein
ATP7A	Xq21.1	Copper-transporting ATPase 1

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
Connective Tissue Gene Tests - Allentown, PA, USA
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
Kennedy Center, Juliane Marie Center, Rigshospitalet, Medical Genetics Laboratory - Glostrup, Denmark	• Analyte
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
University of Chicago, Genetic Services Laboratory - Chicago, IL, 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.