Disorders

Supravalvular Aortic Stenosis

Synonym(s): Supravalvular Aortic Stenosis, Eisenberg Type, SVAS

Gene	Locus	Protein
ELN	7q11.1-q21.1	Elastin

Laboratory	Test Method	Prenatal	Carrier *
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
GGA - Galil Genetic Analysis - Kazerin, Israel
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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.