Disorders


 

TGFBR2-Related Loeys-Dietz Syndrome


 

OMIM

GeneLocusProtein
TGFBR23p22TGF-beta receptor type-2

Laboratory Test Method Prenatal Carrier *
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA  
Baylor College of Medicine, John Welsh Cardiovascular Diagnostic Laboratory - Houston, TX, USA  
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada  
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA  
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany  
Center for Human Genetics, Inc - Cambridge, MA, 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  
Connective Tissue Gene Tests - Allentown, PA, USA  
Correlagen Diagnostics, Inc. - Westborough, MA, USA  
diagenos - Osnabrueck, Germany  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA  
Health in Code S.L. - A Coruña, Spain  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain  
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA  
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
Mayo Clinic - Minnesota, Cardiovascular Laboratory Medicine Genetics - Rochester, MN, USA  
Medgene, MedGene - Bratislava, Slovakia  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain  
St George's University of London, SW Thames Molecular Genetics Diagnostic Laboratory - London, Great Britain  
St James's University Hospital, Leeds Teaching Hospitals, Yorkshire Regional DNA Laboratory - Leeds, Great Britain  
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany  
University Hospital Münster, Institute for Genetics of Heart Diseases (IfGH) - Münster, Germany  
University of Washington Medical Center, Collagen Diagnostic Laboratory - Seattle, WA, 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.

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