Disorders


 

Williams-Beuren Region Duplication Syndrome


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

 

OMIM


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
• Deletion/duplication analysis
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• FISH-interphase
• Deletion/duplication analysis
 
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada• Deletion/duplication analysis
 
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.

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