Disorders

Williams Syndrome

Synonym(s): Williams-Beuren Syndrome

Gene	Locus	Protein
ELN	7q11.1-q21.1	Elastin

Laboratory	Test Method	Prenatal	Carrier *
Akron Children's Hospital, Cytogenetics Laboratory - Akron, OH, USA	• FISH-metaphase
ARUP Laboratories, Inc., Cytogenetics Laboratory - Salt Lake City, UT, USA	• FISH-metaphase
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• FISH-metaphase
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey	• FISH-metaphase
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA
Brigham and Women's Hospital, Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory - Boston, MA, USA	• FISH-metaphase
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA	• FISH-metaphase
Center for Human Genetics, Inc - Cambridge, MA, USA	• FISH-metaphase
CGC Genetics - Porto, Portugal	• FISH-metaphase • FISH-interphase
Cincinnati Children's Hospital Medical Center, Cytogenetics Laboratory - Cincinnati, OH, USA	• FISH-metaphase
CytoGenX - Stony Brook, NY, USA	• FISH-metaphase
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Emory University School of Medicine, Emory Molecular Cytogenetics Laboratory - Atlanta, GA, USA	• FISH-metaphase • FISH-interphase
GeneDx - Gaithersburg, MD, USA	• FISH-metaphase • FISH-interphase
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey	• FISH-metaphase • FISH-interphase
Genetics Associates, Inc. - Nashville, TN, USA	• FISH-metaphase
Greenwood Genetic Center, Clinical Cytogenetics Laboratory - Greenwood, SC, USA	• FISH-metaphase • FISH-interphase
Hospital Clinico Universidad de Chile, Citogenetica Seccion Genetica - Santiago, Chile	• FISH-metaphase • FISH-interphase
Indiana University School of Medicine, Cytogenetics Laboratory - Indianapolis, IN, USA	• FISH-metaphase
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
INTA University of Chile, Molecular Cytogenetic Laboratory - Santiago, Chile	• FISH-metaphase
Integrated Genetics, Cytogenetics and Biochemistry Laboratory - Santa Fe, NM, USA	• FISH-metaphase • FISH-interphase
Integrated Genetics, Molecular Cytogenetics Laboratory - Monrovia, CA, USA	• FISH-metaphase
LabCorp, Clinical Cytogenetics Laboratory - Research Triangle Park, NC, USA	• FISH-metaphase
Marquette General Health System, Cytogenetics and Molecular Pathology Laboratory - Marquette, MI, USA	• FISH-metaphase • FISH-interphase
Mayo Clinic - Minnesota, Cytogenetics Laboratory - Rochester, MN, USA	• FISH-metaphase • FISH-interphase
Medgene, MedGene - Bratislava, Slovakia
Mercy St. Vincent Medical Center, Cytogenetics and Molecular Genetics Laboratory - Toledo, OH, USA	• FISH-metaphase
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany	• FISH-metaphase
Michigan State University, Clinical Genetics Laboratory - East Lansing, MI, USA	• FISH-metaphase • FISH-interphase
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory - Cytogenetics and Cytogenomics Lab - New York, NY, USA	• FISH-metaphase • FISH-interphase
Nationwide Children's Hospital, ChildLab Cytogenetics Laboratory - Columbus, OH, USA	• FISH-metaphase
Nucleo de Genetica Medica de Minas Gerais, GENE - Belo Horizonte, Brazil
Pathology Associates Medical Laboratories, Cytogenetics Laboratory - Spokane, WA, USA	• FISH-metaphase • FISH-interphase
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
Praxis fuer Humangenetik Wien - Vienna, Austria
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Quest Diagnostics Nichols Institute - California, Cytogenetics Laboratory - San Juan Capistrano, CA, USA	• FISH-metaphase
Quest Diagnostics Nichols Institute - Virginia, Cytogenetics Laboratory - Chantilly, VA, USA	• FISH-metaphase
Sanford USD Medical Center, Sanford Clinic USD Genetics Laboratory - Sioux Falls, SD, USA	• FISH-metaphase
Seattle Children's Hospital, Cytogenetics - Seattle, WA, USA	• FISH-metaphase • FISH-interphase
Shodair Children's Hospital, Genetics Laboratory - Helena, MT, USA	• FISH-metaphase • FISH-interphase
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Linkage analysis • FISH-metaphase • FISH-interphase
SUNY Upstate Medical University, Cytogenetics Laboratory - Syracuse, NY, USA	• FISH-metaphase
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany	• FISH-metaphase • FISH-interphase
Tor Vergata University of Roma, School of Medicine, Servizio di Genetica Medica - Rome, Italy	• FISH-metaphase • FISH-interphase
Tulane University School of Medicine, Hayward Genetics Center Cytogenetics Lab - New Orleans, LA, USA	• FISH-metaphase
UMass Memorial Medical Center, Cytogenetics Laboratory - Worcester, MA, USA	• FISH-metaphase
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA	• FISH-metaphase
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada
University of Colorado Anschutz Medical Campus, Colorado Genetics Laboratory - Denver, CO, USA	• FISH-metaphase • FISH-interphase
University of Nebraska Medical Center, Human Genetics Laboratory, Munroe-Meyer Institute - Omaha, NE, USA	• FISH-metaphase • FISH-interphase
University of Washington Medical Center, Cytogenetics Laboratory - Seattle, WA, USA	• FISH-metaphase
University of Wisconsin - Madison / WSLH, UW Cytogenetic Services - Madison, WI, USA	• FISH-metaphase • FISH-interphase
Washington University School of Medicine - Department of Pathology and Immunology, Clinical Genomics Laboratory - Saint Louis, MO, 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.