Detection of hemizygosity at the elastin locus by Fluorescence in situ hybridisation (FISH) (CAT#: STEM-MB-1205-WXH)

Introduction

Both Williams syndrome and isolated supravalvular aortic stenosis (SVAS) are caused by mutations at the elastin locus.
Williams syndrome (WS) is a rare genetic disorder. People with WS may have mild to moderate delays in their cognitive development (ability to think and reason) or learning difficulties.
Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure.