Associated disorders

The JAG1 gene is associated with autosomal dominant Alagille syndrome 1 (MedGen UID: 365434) and tetralogy of Fallot (MedGen UID: 21498).

Order single gene


Order this gene as a single gene test.

Order a test

Invitae tests that include this gene:

The JAG1 gene encodes the jagged-1 protein, which is involved in the Notch signaling pathway. This protein binds to Notch receptors on the membranes of neighboring cells and initiates signaling reactions that determine how embryonic cells develop, such as those that become part of the heart, liver, eyes, ears, and spinal column.

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
JAG1 NM_000214.2