Associated disorders

The ACVR2B gene is associated with autosomal dominant heterotaxy, type 4 (MedGen UID: 462407).

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The percentage of heterotaxy attributed to pathogenic variants identified in ACVR2B is unknown.

Growth and differentiation factors provide important signals for setting up the body plan in the early embryo. The Nodal signaling cascade is responsible for establishing the left-right body axis. The ACVR2B gene encodes an activin type 2 receptor that is preferentially expressed on the left side of the developing embryo and activates the cascade upon binding to Nodal. Pathogenic variants in this gene block the cascade, leading to visceral malrotation and cardiac malformations.

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
ACVR2B NM_001106.3