Disorders

ACTA2-Related Thoracic Aortic Aneurysms and Aortic Dissections

Synonym(s): AAT6, ACTA2-Related TAAD, ACTA2-Related Thoracic Aortic Aneurysms and Dissection, ACTA2-Related Thoracic Aortic Dissection, Familial Thoracic Aortic Aneurysm 6

OMIM

Gene	Locus	Protein
ACTA2	10q23.31	Actin, aortic smooth muscle

Laboratory	Test Method	Prenatal	Carrier *
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 Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany
Center for Human Genetics, Inc - Cambridge, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Cincinnati Children's Hospital Medical Center, Heart Institute Diagnostic Lab - Cincinnati, OH, USA
Connective Tissue Gene Tests - Allentown, PA, USA
diagenos - Osnabrueck, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland	• Targeted mutation analysis
Health in Code S.L. - A Coruña, Spain
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland	• Mutation scanning of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
St George's University of London, SW Thames Molecular Genetics Diagnostic Laboratory - London, Great Britain
Transgenomic - New Haven, CT, USA
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.