Disorders


 

SMAD3-Related Thoracic Aortic Aneurysms and Aortic Dissections


Synonym(s): SMAD3-Related TAAD

 

OMIM

GeneLocusProtein
SMAD315q21-q22Mothers against decapentaplegic homolog 3

Laboratory Test Method Prenatal Carrier *
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
Center for Human Genetics, Inc - Cambridge, MA, USA• Sequence analysis of the entire coding region
 
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA• Sequence analysis of the entire coding region
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
 
University of Washington Medical Center, Collagen Diagnostic Laboratory - Seattle, WA, 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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