Associated disorders

The JAK3 gene is associated with autosomal recessive severe combined immunodeficiency (SCID) (MedGen UID: 331474).

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An estimated 6% – 7% of severe combined immunodeficiency (SCID) is caused by pathogenic variants identified in JAK3.

JAK3 encodes a protein which is a member of the Janus kinase (JAK) family of tyrosine kinases. JAK3 is expressed mostly in immune cells and it is involved in a cytokine-mediated intracellular signal transduction pathway. It is activated via tyrosine phosphorylation by interleukin receptors and then it transduces the signal which results in the translocation of dimerized STAT5 protein to the nucleus where it induces transcription of target genes.

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
JAK3 NM_000215.3