Disorders


 

MAP2K1-Related Noonan Syndrome


 

OMIM

GeneLocusProtein
MAP2K115q22.1-q22.33Dual specificity mitogen-activated protein kinase kinase 1

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA  
diagenos - Osnabrueck, Germany  
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA  
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
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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