Disorders


 

TGFB2-Related Loeys-Dietz Syndrome


Synonym(s): Loeys-Dietz Syndrome Type 4

 

OMIM

GeneLocusProtein
TGFB21q41Transforming growth factor beta-2

Laboratory Test Method Prenatal Carrier *
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
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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