Disorders


 

Beckwith-Wiedemann Syndrome


Synonym(s): BWS, Wiedemann-Beckwith Syndrome

 

GeneReviewOMIM

GeneLocusProtein
KCNQ1OT111p15.5 

Laboratory Test Method Prenatal Carrier *
Aachen, RWTH, Institute of Human Genetics - Aachen, Germany• Uniparental disomy study (UPD)
  
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands• Uniparental disomy study (UPD)
  
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada• Uniparental disomy study (UPD)
  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• FISH-metaphase
• FISH-interphase
  
bio.logis Center for Human Genetics - Frankfurt, Germany• Uniparental disomy study (UPD)
  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Uniparental disomy study (UPD)
  
Centogene AG, Rare Disease Company - Rostock, Germany  
CGC Genetics - Porto, Portugal  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
diagenos - Osnabrueck, Germany  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Uniparental disomy study (UPD)
  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Uniparental disomy study (UPD)
  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada• Uniparental disomy study (UPD)
  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Uniparental disomy study (UPD)
  
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden• Linkage analysis
• Uniparental disomy study (UPD)
  
Kennedy Center, Juliane Marie Center, Rigshospitalet, Medical Genetics Laboratory - Glostrup, Denmark• Uniparental disomy study (UPD)
  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
LabCorp, Clinical Cytogenetics Laboratory - Research Triangle Park, NC, USA• Uniparental disomy study (UPD)
  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA  
Medgene, MedGene - Bratislava, Slovakia  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany• Uniparental disomy study (UPD)
  
Monash Medical Centre, Genetics and Molecular Pathology - Melbourne, Australia• Uniparental disomy study (UPD)
  
Pathology Associates Medical Laboratories, Cytogenetics Laboratory - Spokane, WA, USA• FISH-metaphase
• FISH-interphase
  
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA• FISH-metaphase
• FISH-interphase
  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Shodair Children's Hospital, Genetics Laboratory - Helena, MT, USA• Uniparental disomy study (UPD)
  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Linkage analysis
• Uniparental disomy study (UPD)
  
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany• Uniparental disomy study (UPD)
  
University of Pennsylvania School of Medicine, Genetic Diagnostic Laboratory - Philadelphia, PA, USA• Uniparental disomy study (UPD)
  
Washington University School of Medicine, Molecular Diagnostic Laboratory - St. Louis, MO, USA  

* 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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