Disorders

Noonan-Like Syndrome with Loose Anagen Hair

Gene	Locus	Protein
SHOC2	10q25	Leucine-rich repeat protein SHOC-2

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	• Targeted mutation analysis
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA	• Targeted mutation analysis
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA	• Sequence analysis of select exons
InVitae Corporation - San Francisco, CA, USA
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain	• Targeted mutation analysis
Nationwide Children's Hospital, ChildLab Molecular Genetics Laboratory - Columbus, OH, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• Sequence analysis of select exons
Universidad de Zaragoza, Facultad de Medicina, Laboratorio de Genética Clínica y Genómica Funcional - Zaragoza, Spain
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.