Saethre-Chotzen/Williams-Beuren Combination LPU024

Saethre-Chotzen syndrome is characterized by craniofacial and limb abnormalities, and the incidence of this rare syndrome is estimated at between 1 in 25-50,000 live births. This autosomal dominant disorder is one of the most difficult to diagnose and the identification of the causative gene TWIST, a transcription factor on chromosome 7, as has proved invaluable for the diagnosis.

Williams-Beuren Syndrome (WBS) is a developmental disorder caused by a microdeletion within band 7q11.23. Patients display connective tissue problems, typically supravalvular aortic stenosis (SVAS), growth retardation, renal anomalies, transient hypercalcaemia, hyperacusis and mental retardation. Haploinsufficiency of the elastin (ELN) gene has been identified as being responsible for some but not all phenotypes exhibited in WBS.

The Saethre-Chotzen/Williams Beuren combined product provides two tests in one. The Williams probe acts as a control for Saethre-Chotzen diagnosis and vice versa, as these are completely separate syndrome on the same chromosome.