ELA2; GE; HLE; HNE; NE; PMN-E; SCN1
The ELANE gene is associated with autosomal dominant ELANE-related neutropenia, including both congenital (MedGen UID: 348506) and cyclical (MedGen UID: 65121).
Order this gene as a single gene test.
Invitae tests that include this gene:
The ELANE gene is the only known gene to cause ELANE-related neutropenia. An estimated 90-100% of individuals with cyclical neutropenia will have a pathogenic variant identified in ELANE, while 38-80% of individuals with congenital neutropenia will have a pathogenic variant identified in ELANE.
The ELANE gene encodes for the neutrophil elastase protein. This protein hydrolyzes within neutrophil lysosomes and may play a role in degenerative and inflammatory diseases.
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|