Disorders


 

Goldberg-Shprintzen Megacolon Syndrome


Synonym(s): GOSHS

 

OMIM

GeneLocusProtein
KIAA127910q22.1KIF1-binding protein

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
University of Chicago, Genetic Services Laboratory - Chicago, IL, 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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