Disorders


 

SOS1-Related Noonan Syndrome


Synonym(s): Noonan Syndrome 4

 

OMIM

GeneLocusProtein
SOS12p21Son of sevenless homolog 1

Laboratory Test Method Prenatal Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA  
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  
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA  
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  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
diagenos - Osnabrueck, Germany• Mutation scanning of the entire coding region
  
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  
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  
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  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland  
Medgene, MedGene - Bratislava, Slovakia  
Nationwide Children's Hospital, ChildLab Molecular Genetics Laboratory - Columbus, OH, USA  
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  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of select exons
  
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany  
Universidad de Zaragoza, Facultad de Medicina, Laboratorio de Genética Clínica y Genómica Funcional - Zaragoza, Spain  
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.

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