Disorders


 

GATA1-Related Cytopenia


 

GeneReviewOMIM

GeneLocusProtein
GATA1Xp11.23Erythroid transcription factor

Laboratory Test Method Prenatal Carrier *
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA• Sequence analysis of the entire coding region
  
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
University of Greifswald, Institute of Human Genetics - Greifswald, Germany• 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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