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

 

OMIM

GeneLocusProtein
RAG211p13Protein artemis

Laboratory Test Method Prenatal Carrier *
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel  
GeneDx - Gaithersburg, MD, USA  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Odense University Hospital, Department of Clinical Immunology - Odense C, Denmark  
Seattle Children's Research Institute, Immunology Diagnostics Laboratory - Seattle, WA, USA  
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.

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