The ACTN2 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) with or without left ventricular noncompaction (LVNC) (MedGen UID: 393713) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic ACTN2 variants are associated with an unknown percentage of clinical cases of DCM and are a rare cause of HCM.
The ACTN2 gene encodes the protein alpha actinin-2. Alpha actinin-2 is a cytoskeletal protein that is present in both cardiac and skeletal muscle. Cytoskeletal proteins help to anchor the sarcomere complex in muscle cells. The primary role of the sarcomere complex is muscle contraction. Pathogenic variants in genes that disrupt the anchoring or structure of the sarcomere complex are a common cause of inherited cardiomyopathies.
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|