Disorders


 

Growth Retardation, Developmental Delay, Coarse Facies, and Early Death


 

OMIM

GeneLocusProtein
FTO16q12.2Alpha-ketoglutarate-dependent dioxygenase FTO

Laboratory Test Method Prenatal Carrier *
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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