RAG-deficient severe combined immunodeficiency


Description

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. Download the referral form >


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. Download additional information >


Sending address

Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
Barclay House
37 Queen Square
London
WC1N 3BH

Laboratory service

Genetics


Sample requirements

1ml EDTA neonates, 5ml EDTA adults


Reference range

Not applicable


Turnaround time

40 days


Disease / group

RAG1


Cost

Upon request


Call in advance?

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


Genetics

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