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
