Disorders


 

GDNF-Related Hirschsprung Disease


 

OMIM

GeneLocusProtein
GDNF5p13.1-p12Glial cell line-derived neurotrophic factor

Laboratory Test Method Prenatal Carrier *
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands• 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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