Disorders


 

GPHN-Related Hyperekplexia


 

OMIM

GeneLocusProtein
GPHN14q23.3Gephyrin

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
Medical Neurogenetics - Atlanta, GA, USA  
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, 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.

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