Williams Syndrome Deletion

Test Background

Williams-Beuren syndrome is a microdeletion syndrome involving genes at 7q11.2. Deletions or mutations in the ELN gene are thought to underlie the cardiovascular phenotype. Haploinsufficiency for the LIMK1 gene is thought to underlie the visuospatial disability. Among patients with the clinical features of Williams-Beuren syndrome, MLPA will detect a deletion in greater than 99%.

Gene(s)

ELN, LIMK1

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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