Disorders


 

BRAF-Related LEOPARD Syndrome


 

OMIM

GeneLocusProtein
BRAF7q34Serine/threonine-protein kinase B-raf

Laboratory Test Method Prenatal Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA• Sequence analysis of select exons
  
Center for Human Genetics, Inc - Cambridge, MA, USA  
Centogene AG, Rare Disease Company - Rostock, Germany  
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA  
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA  
InVitae Corporation - San Francisco, CA, USA  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain• Sequence analysis of select exons
  
Medgene, MedGene - Bratislava, Slovakia  
Medical Neurogenetics - Atlanta, GA, USA  
Praxis fuer Humangenetik Wien - Vienna, Austria  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  

* 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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