Disorders


 

PTPN11-Related LEOPARD Syndrome


Synonym(s): Cardiomyopathic Lentiginosis, Multiple Lentigines Syndrome

 

OMIM

GeneLocusProtein
PTPN1112q24.1Tyrosine-protein phosphatase non-receptor type 11

Laboratory Test Method Prenatal Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA  
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
bio.logis Center for Human Genetics - Frankfurt, Germany  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany  
Center for Human Genetics, Inc - Cambridge, MA, USA  
CGC Genetics - Porto, Portugal  
Charit Unversitaetsmedizin Berlin, Institute of Medical Genetics and Human Genetics - Berlin, Germany  
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA  
Cretan Center for Research and Development of Applications on Genetics and Molecular Biology, DNAbiolab - Heraklion, Greece  
diagenos - Osnabrueck, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GeneDx - Gaithersburg, MD, USA  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Mutation scanning of select exons
  
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA  
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA  
Health in Code S.L. - A Coruña, Spain  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of select exons
  
InVitae Corporation - San Francisco, CA, USA  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory - New York, NY, USA  
Nationwide Children's Hospital, ChildLab Molecular Genetics Laboratory - Columbus, OH, USA  
Novogenia - Mondsee, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Linkage analysis
  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of select exons
  
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany• Sequence analysis of select exons
  
Transgenomic, Transgenomic - Omaha - Omaha, NE, USA• Mutation scanning 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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