Disorders

Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, RAG1/RAG2-Related

Synonym(s): B Cell-Negative Severe Combined Immunodeficiency, SCID, Autosomal Recessive

Gene	Locus	Protein
RAG2	11p13	Protein artemis

Laboratory	Test Method	Prenatal	Carrier *
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel	• Sequence analysis of the entire coding region
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany	• Sequence analysis of the entire coding region
Odense University Hospital, Department of Clinical Immunology - Odense C, Denmark	• Sequence analysis of the entire coding region
Seattle Children's Research Institute, Immunology Diagnostics Laboratory - Seattle, WA, USA	• Sequence analysis of the entire coding region
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands	• 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.