Disorders

MAP2K1-Related Cardiofaciocutaneous Syndrome

Synonym(s): MAP2K1-Related Cardio-facio-cutaneous Syndrome

Gene	Locus	Protein
MAP2K1	15q22.1-q22.33	Dual specificity mitogen-activated protein kinase kinase 1

Laboratory	Test Method	Prenatal	Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA	• Sequence analysis of select exons
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
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
diagenos - Osnabrueck, Germany
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
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain	• Sequence analysis of select exons
Nationwide Children's Hospital, ChildLab Molecular Genetics Laboratory - Columbus, OH, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of select exons
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Universidad de Zaragoza, Facultad de Medicina, Laboratorio de Genética Clínica y Genómica Funcional - Zaragoza, Spain

^* 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.