Disorders


 

Microcephaly, Cortical Malformations, and Mental Retardation


Synonym(s): Pachygyria with Mental Retardation and Seizures

 

OMIM

GeneLocusProtein
WDR6219q13.12WD repeat-containing protein 62

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
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
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany• Sequence analysis of the entire coding region
• Linkage analysis
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA• Sequence analysis of the entire coding region
• Deletion/duplication 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.

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