Disorders


 

ATP7A-Related Copper Transport Disorders


 

GeneReviewOMIM

GeneLocusProtein
ATP7AXq21.1Copper-transporting ATPase 1

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

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