Disorders

EMD-Related Emery-Dreifuss Muscular Dystrophy, X-Linked

Synonym(s): EDMD1, Emerinopathy, Emery-Dreifuss Muscular Dystrophy 1, Scapuloperoneal MD, X-Linked Scapuloperoneal Syndrome

OMIM

Gene	Locus	Protein
EMD	Xq27.3-q28	Emerin

Laboratory	Test Method	Prenatal	Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Baylor College of Medicine, John Welsh Cardiovascular Diagnostic Laboratory - 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
Cincinnati Children's Hospital Medical Center, Heart Institute Diagnostic Lab - Cincinnati, OH, USA
City of Hope National Medical Center, Clinical Molecular Diagnostic Laboratory - Duarte, CA, USA
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA
Medical Neurogenetics - Atlanta, GA, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Shaare Zedek Medical Center, Medical Genetics Institute - Jerusalem, Israel	• Linkage analysis
University of Greifswald, Institute of Human Genetics - Greifswald, Germany	• Protein analysis
University of Minnesota, University of Minnesota Physicians Outreach Laboratory - Minneapolis, MN, 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.