Disorders


 

Vohwinkel Syndrome


Synonym(s): Deafness and Mutilating Keratoderma

 

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• Sequence analysis of the entire coding region
  
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
  
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
 
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey• 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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