Disorders

Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus

Synonym(s): Wolcott-Rallison Syndrome

Gene	Locus	Protein
EIF2AK3	2p12	Eukaryotic translation initiation factor 2-alpha kinase 3

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
Connective Tissue Gene Tests - Allentown, PA, USA
GeneDx - Gaithersburg, MD, USA
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA

^* 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.