AOVD2; HsT17432; MADH6; MADH7
The SMAD6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant aortic valve disease type 2 (AOVD2) (MedGen UID: 762200) and syndromic structural heart defects (PMID: 22275001).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic SMAD6 variants are associated with an unknown percentage of clinical cases of aortic-valve disorder.
The SMAD6 gene encodes a protein that helps to regulate the TGF-beta signaling pathway. The TGF-beta signaling pathway is important for cell growth, cell differentiation and cell regulation.
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|