Disorders


 

Dystrophinopathies


 

GeneReviewOMIM

GeneLocusProtein
DMDXp21.2Dystrophin

Laboratory Test Method Prenatal Carrier *
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark• Deletion/duplication analysis
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada• Deletion/duplication analysis
 
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA• Deletion/duplication analysis
 
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA• Deletion/duplication analysis
 
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
ATS GeneTech Private Limited, GeneTech - Hyderabad, India• Deletion/duplication analysis
 
bio.logis Center for Human Genetics - Frankfurt, Germany• Deletion/duplication analysis
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Deletion/duplication analysis
 
Centre for Cellular and Molecular Biology, Molecular Diagnostics Division - Hyderabad, India• Sequence analysis of select exons
• Linkage analysis
• Deletion/duplication analysis
Centre for DNA Fingerprinting and Diagnostics, Diagnostics Division - Hyderabad, India• Linkage analysis
• Deletion/duplication analysis
CGC Genetics - Porto, Portugal• Deletion/duplication analysis
Children's University Hospital, Human Genetics - Berne, Switzerland• Mutation scanning of the entire coding region
• Linkage analysis
• Deletion/duplication analysis
City of Hope National Medical Center, Clinical Molecular Diagnostic Laboratory - Duarte, CA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• 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
Faculty of Medicine, Pontificia Universidad Católica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service - Santiago, Chile• Deletion/duplication analysis
 
GENDA - Ciudad autonoma de Buenos Aires, Argentina• Linkage analysis
• Deletion/duplication analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey• Deletion/duplication analysis
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA• Deletion/duplication analysis
GSTS Pathology, DNA Laboratory - London, Great Britain• Sequence analysis of the entire coding region
• Linkage analysis
• Deletion/duplication analysis
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Hospital Sainte-Justine, Molecular Diagnostics Laboratory - Montreal, Canada• Linkage analysis
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain• Deletion/duplication analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of the entire coding region
• Linkage analysis
• Deletion/duplication analysis
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA• Linkage analysis
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden• Linkage analysis
• Deletion/duplication analysis
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand• Deletion/duplication analysis
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands• Mutation scanning of the entire coding region
• Linkage analysis
• Deletion/duplication analysis
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
• Linkage analysis
• Deletion/duplication analysis
New Jersey Medical School, Institute of Genomic Medicine - Newark, NJ, USA• Deletion/duplication analysis
Ohio State University, Molecular Pathology Laboratory - Columbus, OH, USA• Deletion/duplication analysis
• Mutation scanning of select exons
 
Oregon Health and Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA• Deletion/duplication analysis
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA• Deletion/duplication analysis
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Linkage analysis
• Deletion/duplication analysis
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Sequence analysis of select exons
• Linkage analysis
• Deletion/duplication analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of the entire coding region
• Linkage analysis
• Deletion/duplication analysis
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA• Deletion/duplication analysis
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany• Deletion/duplication analysis
University Hospital Brno, Center of Molecular Biology and Gene Therapy - Brno, Czech Republic• Sequence analysis of the entire coding region
• Mutation scanning of the entire coding region
University Hospital of Antwerp, Department of Medical Genetics - Wuyts Lab - Edegem, Belgium• Mutation scanning of the entire coding region
• Deletion/duplication analysis
University of Bonn, Institute of Human Genetics - Bonn, Germany• Sequence analysis of the entire coding region
• Linkage analysis
• Deletion/duplication analysis
University of Greifswald, Institute of Human Genetics - Greifswald, Germany• Sequence analysis of the entire coding region
• Linkage analysis
• Deletion/duplication analysis
University of Turku, Diagnostic DNA Laboratory - Turku, Finland• Deletion/duplication analysis
University of Utah, Utah Genome Center - Salt Lake City, UT, 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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