IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Deletion, ELN
Definition : Molecular assay reagents intended to identify deletions in the elastin (ELN) gene, located in 7q11.23, which encodes for elastin, a major structural protein of tissue that must expand quickly and contract completely (e.g., the aorta). Inherited genetic deletions are present in most patients with Williams-Beuren syndrome; some deletions may cause only connective tissue abnormalities and supravalvular aortic stenosis (SVAS).
Entry Terms : "Supravalvular Aortic Stenosis (SVAS) Diagnostic Reagents" , "Elastin Areriopathy Diagnostic Reagents" , "Williams-Beuren Syndrome Diagnostic Reagents" , "ELN Gene Deletion Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Deletion, ELN"
UMDC code : 24176