Williams Syndrome Deletion

Test Background

Williams-Beuren syndrome is a microdeletion syndrome involving genes at 7q11.23. DNA testing consists of deletion analysis of the ELN gene. Deletions or mutations in the ELN gene are thought to underlie the cardiovascular phenotype. Haplosufficiency for other genes close to ELN, that are typically involved in the microdeletion, are thought to underlie the visuospatial disibility and some of the other features frequently observed in individuals with this syndrome. Among patients with the clinical features of Williams-Beuren syndrome, MLPA will detect a deletion in greater than 90%.

Gene(s): 

ELN

Lab Method

MLPA

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

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