Disorders


 

Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant


Synonym(s): KID Syndrome, Autosomal Dominant

 

OMIM

GeneLocusProtein
GJB213q11-q12Gap junction beta-2 protein

Laboratory Test Method Prenatal Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA  
CeGaT GmbH - Tuebingen, Germany  
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany  
GeneDx - Gaithersburg, MD, USA  
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany  
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada  

* 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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