RAG-deficient severe combined immunodeficiency


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

Request a test

When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.

Additional information

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.

Sending address

Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 Barclay House
37 Queen Square

Laboratory service


Sample requirements

1ml EDTA neonates, 5ml EDTA adults

Reference range

Not applicable

Turnaround time

40 days

Disease / group



Upon request

Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

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