Disorders


 

Wilson Disease


Synonym(s): Hepatolenticular Degeneration

 

GeneReviewOMIM

GeneLocusProtein
ATP7B13q14.3Copper-transporting ATPase 2

Laboratory Test Method Prenatal Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA  
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia• Targeted mutation analysis
  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
bio.logis Center for Human Genetics - Frankfurt, Germany  
CeGaT GmbH - Tuebingen, Germany  
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Targeted mutation analysis
  
Center for Human Genetics, Inc - Cambridge, MA, USA  
Centogene AG, Rare Disease Company - Rostock, Germany  
CGC Genetics - Porto, Portugal  
Children's University Hospital, Human Genetics - Berne, Switzerland• Mutation scanning of the entire coding region
  
Connective Tissue Gene Tests - Allentown, PA, USA  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
diagenos - Osnabrueck, Germany  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Sequence analysis of select exons
  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
Gene Analysis Service - Berlin, Germany  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland• Targeted mutation analysis
  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of select exons
  
Kennedy Center, Juliane Marie Center, Rigshospitalet, Medical Genetics Laboratory - Glostrup, Denmark  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand  
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA  
Medgene, MedGene - Bratislava, Slovakia  
National University Hospital, Molecular Diagnosis Centre - Department of Laboratory Medicine - Singapore, Singapore  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea  
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA  
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea  
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain  
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Linkage analysis
  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of select exons
  
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany  
University Hospital Brno, Center of Molecular Biology and Gene Therapy - Brno, Czech Republic  
University Hospital Ostrava, DNA Diagnostics Laboratory - Ostrava, Czech Republic• Targeted mutation analysis
  
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA  
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, 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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