IVD ELN/7q22

Williams-Beuren syndrome (WS) is characterized by cardiovascular disease, distinctive facial features, connective tissue abnormalities, mental retardation and endocrine abnormalities. Over 99% of individuals with the clinical diagnosis of WS have this contiguous gene deletion, that encompasses the elastin (ELN) gene region including ELN, LIMK1, and the D7S613 locus. The Williams-Beuren region probe is optimized to detect copy numbers of the ELN gene region at 7q11. The 7q22 region specific FISH probe at 7q22 is included as control probe.

References:
Ewart, et al, 1993, Nat. Genet., 5; 11-16.
Botta et al, 1999, J. Med. Genet., 36; 478-480.