Williams-Beuren ELN (7q11) / 7q22 probe hybridized to a normal metaphase (2RG).

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.

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



MD Williams-Beuren ELN (7q11) / 7q22 10T
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