Disorders


 

Agenesis of the Corpus Callosum with Mental Retardation, Ocular Coloboma, and Micrognathia


 

OMIM

GeneLocusProtein
IGBP1Xq13.1-q13.3Immunoglobulin-binding protein 1

Laboratory Test Method Prenatal Carrier *
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• 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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