Disorders


 

Noonan-Like Syndrome with Loose Anagen Hair


 

OMIM

GeneLocusProtein
SHOC210q25Leucine-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• Sequence analysis of the entire coding region
 
Center for Human Genetics, Inc - Cambridge, MA, USA• Targeted mutation analysis
 
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA• Sequence analysis of the entire coding region
 
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
 
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• Sequence analysis of the entire coding region
 
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• Sequence analysis of the entire coding region
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
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• Sequence analysis of the entire coding region
 
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA• Sequence analysis of the entire coding region
 

* 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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