Disorders

PTPN11-Related Noonan Syndrome

Synonym(s): Noonan Syndrome 1

Gene	Locus	Protein
PTPN11	12q24.1	Tyrosine-protein phosphatase non-receptor type 11

Laboratory	Test Method	Prenatal	Carrier *
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
bio.logis Center for Human Genetics - Frankfurt, Germany
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA
Burc Molecular Genetics Laboratory - Istanbul, Turkey
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Center for Human Genetics, Inc - Cambridge, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal	• Targeted mutation analysis
Charit Unversitaetsmedizin Berlin, Institute of Medical Genetics and Human Genetics - Berlin, Germany
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA
Correlagen Diagnostics, Inc. - Westborough, MA, USA
Cretan Center for Research and Development of Applications on Genetics and Molecular Biology, DNAbiolab - Heraklion, Greece
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of select exons
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
Faculty of Medicine, Pontificia Universidad Católica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service - Santiago, Chile	• Sequence analysis of select exons
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
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
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland	• Mutation scanning of select exons
Health in Code S.L. - A Coruña, Spain
Innovagenomics S.L, Innovagenomics - Salamanca, Spain
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Sequence analysis of select exons
InVitae Corporation - San Francisco, CA, USA
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland
Medgene, MedGene - Bratislava, Slovakia
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
Oregon Health and Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA
Praxis fuer Humangenetik Wien - Vienna, 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
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
Shaare Zedek Medical Center, Medical Genetics Institute - Jerusalem, Israel	• Linkage analysis
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
Universidad de Zaragoza, Facultad de Medicina, Laboratorio de Genética Clínica y Genómica Funcional - Zaragoza, Spain
University of California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, USA
University of Goettingen, Institute of Human Genetics - Goettingen, Germany
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA
University of Nebraska Medical Center, Human Genetics Laboratory, Munroe-Meyer Institute - Omaha, NE, 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.