Associated disorders

The NOTCH1 gene is associated with autosomal dominant aortic valve disorder (MedGen UID: 226776) and Adams-Oliver syndrome (MedGen UID: 807523).

Order single gene


Order this gene as a single gene test.

Order a test

Invitae tests that include this gene:

Pathogenic NOTCH1 variants are associated with 30%-50% of clinical cases of Adams-Oliver syndrome and are a rare cause of aortic-valve disorder.

The NOTCH1 gene encodes a class I transmembrane protein that regulates cell-fate decisions during development by functioning as a ligand-activated transcription factor. It plays an important role during embryogenesis, cell-fate specification, maintenance of stem cells, proliferation, and apoptosis.

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
NOTCH1 NM_017617.3