Disorders

SMAD3-Related Loeys-Dietz Syndrome

Synonym(s): Loeys-Dietz Syndrome Type 3

Gene	Locus	Protein
SMAD3	15q21-q22	Mothers against decapentaplegic homolog 3

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Connective Tissue Gene Tests - Allentown, PA, USA
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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.