Disorders


 

FBN1-Related Thoracic Aortic Aneurysms and Aortic Dissections


Synonym(s): FBN1-Related TAAD, FBN1-Related Thoracic Aortic Aneurysms and Dissection, FBN1-Related Thoracic Aortic Dissection

 

OMIM

GeneLocusProtein
FBN115q21.1Fibrillin-1

Laboratory Test Method Prenatal Carrier *
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
Baylor College of Medicine, John Welsh Cardiovascular Diagnostic Laboratory - Houston, TX, USA• Sequence analysis of the entire coding region
 
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany• 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
• Deletion/duplication analysis
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Connective Tissue Gene Tests - Allentown, PA, USA• Deletion/duplication analysis
 
GeneDx - Gaithersburg, MD, USA• Deletion/duplication analysis
 
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA• Sequence analysis of the entire coding region
 
Health in Code S.L. - A Coruña, Spain• Sequence analysis of the entire coding region
 
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Mayo Clinic - Minnesota, Cardiovascular Laboratory Medicine Genetics - Rochester, MN, USA• Sequence analysis of the entire coding region
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• 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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