Disorders


 

EDN3-Related Hirschsprung Disease


 

OMIM

GeneLocusProtein
EDN320q13.2-q13.3Endothelin-3

Laboratory Test Method Prenatal Carrier *
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA  
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, 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.

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