Associated disorders

The ELN gene is associated with autosomal dominant supravalvar aortic stenosis (MedGen UID: 2001) and autosomal dominant cutis laxa (MedGen UID: 120630) and is one of the genes commonly deleted in the microdeletion associated with Williams syndrome (MedGen UID: 59799).

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Invitae tests that include this gene:

The ELN gene encodes tropoelastin. Multiple copies of tropoelastin combine to form the protein elastin, which is a component of elastic fibers. These fibers give connective tissue its characteristic strength and flexibility and provide support to organs and tissues via the extracellular matrix.

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
ELN NM_001278939.1