Disorders

Omenn Syndrome

Synonym(s): Familial Reticuloendotheliosis with Eosinophilia, SCID with Hypereosinophilia

Gene	Locus	Protein
RAG2	11p13	Protein artemis

Laboratory	Test Method	Prenatal	Carrier *
GeneDx - Gaithersburg, MD, USA	• Targeted mutation analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, 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.