Disorders


 

EIF2B5-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter


 

OMIM

GeneLocusProtein
EIF2B53q27.3Translation initiation factor eIF-2B subunit epsilon

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
bio.logis Center for Human Genetics - Frankfurt, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Hospital Sainte-Justine, Molecular Diagnostics Laboratory - Montreal, Canada• Targeted mutation analysis
  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Targeted mutation analysis
  
Medical Neurogenetics - Atlanta, GA, USA  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Vrije Universiteit Medical Center, Laboratory for DNA and Protein Diagnostics - Amsterdam, Netherlands  

* 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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