Disorders


 

Waardenburg Syndrome Type IVB


Synonym(s): Waardenburg Syndrome with Hirschsprung Disease, Type 4B, WS4B

 

OMIM

GeneLocusProtein
EDN320q13.2-q13.3Endothelin-3

Laboratory Test Method Prenatal Carrier *
Center for Human Genetics, Inc - Cambridge, MA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA• Sequence analysis of the entire coding region
 
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Targeted mutation analysis

* 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.

Loading...