Associated disorders

The RAG2 gene is associated with autosomal recessive severe combined immunodeficiency (SCID) (MedGen UID: 321935). Additionally, the RAG2 gene has preliminary evidence supporting a correlation with autosomal recessive combined cellular and humoral immunodeficiency with granulomatous disease (MedGen UID: 435945).

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Invitae tests that include this gene:

An estimated 2% of severe combined immunodeficiency (SCID) is caused by pathogenic variants identified in RAG2.

The RAG2 gene encodes a protein involved in the initiation of V(D)J recombination during B and T cell development. It forms a complex with the product of the RAG1 gene and cleaves the DNA at conserved recombination signal sequences, creating double-strand breaks to allow for recombination of DNA segments.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
RAG2 NM_000536.3