ACTRIIB; ActR-IIB; HTX4
The ACVR2B gene is associated with autosomal dominant heterotaxy, type 4 (MedGen UID: 462407).
Order this gene as a single gene test.
Invitae tests that include this gene:
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. Mutations in this gene block the cascade, leading to visceral malrotation and cardiac malformations.
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|