Disorders

Williams-Beuren Region Duplication Syndrome

Synonym(s): WBS Duplication Syndrome, Williams Syndrome Region Duplication Syndrome

Laboratory	Test Method	Prenatal	Carrier *
Cincinnati Children's Hospital Medical Center, Cytogenetics Laboratory - Cincinnati, OH, USA	• FISH-metaphase
GeneDx - Gaithersburg, MD, USA	• FISH-metaphase • FISH-interphase
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany	• FISH-interphase
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada
University of Colorado Anschutz Medical Campus, Colorado Genetics Laboratory - Denver, CO, USA	• FISH-metaphase • FISH-interphase

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.