RAG-deficient severe combined immunodeficiency (RAG-SCID) is an autosomal recessive immunodeficiency characterised by a lack of circulating T and B cells. Affected individuals can be diagnosed on the basis of an abnormality or deficiency of the V(D)J recombinase subunits, RAG1 and RAG2. The RAG1 and RAG2 genes have 2 exons of which exon 2 is coding. Family specific mutations have been found throughout the coding region of both genes. Omenn syndrome is a leaky TlowB-SCID characterised by reticuloendotheliosis and eosinophilia It is caused by mutations in RAG1 and RAG2 that result in a partially functional recombinase.
Also known as
RAG-SCID, T cell-negative (T-) B cell-negative (B-) natural killer cell-positive (NK+) severe combined immunodeficiency (SCID), Omenn syndrome
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When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.
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The guidelines for the NCG service for immunodeficiencies apply to the molecular analysis of RAG-SCID (details on request). Due to the requirement of a bone marrow sample for protein analysis, the undertaking of mutation screening in the absence of protein testing will be considered on a case-by-case basis.
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
1ml EDTA neonates, 5ml EDTA adults
Disease / group
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Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis