• Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit



RAG-1; RNF74

Associated disorders

The RAG1 gene is associated with autosomal recessive severe combined immunodeficiency (SCID) (MedGen UID: 321935). Additionally, the RAG1 gene has preliminary evidence supporting a correlation with autosomal recessive destructive midline granulomatous disease (MedGen UID: 435945).

An estimated 16% of severe combined immunodeficiency (SCID) is caused by pathogenic variants identified in RAG1 (PMID: 25138334).

The RAG1 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 RAG2 gene and cleaves the DNA at conserved recombination signal sequences, creating double-strand breaks to allow for recombination of DNA segments (PMID: 16960852).

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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

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
RAG1 NM_000448.2