Disorders

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

Gene	Locus	Protein
EIF2B5	3q27.3	Translation 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.