Disorders


 

Von Hippel-Lindau Disease


Synonym(s): Angiomatosis Retinae, Lindau Disease, VHL Syndrome, von Hippel-Lindau Syndrome

 

GeneReviewOMIM

GeneLocusProtein
VHL3p25.3Von Hippel-Lindau disease tumor suppressor

Laboratory Test Method Prenatal Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Sequence analysis of the entire coding region
 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
bio.logis Center for Human Genetics - Frankfurt, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Center for Human Genetics, Inc - Cambridge, MA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
CGC Genetics - Porto, Portugal• Deletion/duplication analysis
 
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Cliniques universitaires Saint Luc, Center for Human Genetics - Brussels, Belgium• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Department of Genetics UAB, Medical Genomics Laboratory - Birmingham, AL, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
 
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland• Sequence analysis of the entire coding region
 
Innovagenomics S.L, Innovagenomics - Salamanca, Spain• Mutation scanning of the entire coding region
• Deletion/duplication analysis
 
Institut de Cancrologie Gustave Roussy, Laboratoire de Gntique - Villejuif, France• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Institute of Medical and Veterinary Science, Molecular Pathology - Adelaide, Australia• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
InVitae Corporation - San Francisco, CA, USA• Sequence analysis of the entire coding region
 
IWK Health Centre, Molecular Diagnostic Laboratory - Halifax, Canada• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
 
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Mayo Clinic - Minnesota, Endocrine Laboratory - Rochester, MN, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of the entire coding region
 
Transgenomic, Transgenomic - Omaha - Omaha, NE, USA• Sequence analysis of the entire coding region
 
University Children's Hospital, Labor Molekulargenetik, Abteilung Medizinische Genetik - Basel, Switzerland• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
University Hospitals of Geneva - Genetic Medicine, Genetic Oncology - DiagMol - Geneva, Switzerland• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA• Sequence analysis of the entire coding region
 
University of Pittsburgh Medical Center, Division of Molecular Diagnostics - Pittsburgh, PA, USA• Sequence analysis of the entire coding region
 

* 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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