Disorders


 

Hereditary Leiomyomatosis and Renal Cell Cancer


Synonym(s): Hereditary Leiomyomatosis and Renal Cell Carcinoma, HLRCC

 

GeneReviewOMIM

GeneLocusProtein
FH1q42.1Fumarate hydratase

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA• Mutation scanning of the entire coding region
  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GeneDx - Gaithersburg, MD, USA  
Innovagenomics S.L, Innovagenomics - Salamanca, Spain• Mutation scanning of the entire coding region
  
Institut de Cancrologie Gustave Roussy, Laboratoire de Gntique - Villejuif, France• Enzyme assay
  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Medgene, MedGene - Bratislava, Slovakia  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain  
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, 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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