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  • Alternate specimens:
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SMAD3

Alias

HSPC193; HsT17436; JV15-2; LDS1C; LDS3; MADH3

Associated disorders

The SMAD3 gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 468423) and Loeys-Dietz syndrome (LDS) (MedGen UID: 462437).

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SMAD3

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Invitae tests that include this gene:

Pathogenic SMAD3 variants are associated with 2% of clinical cases of thoracic aortic aneurysm and dissection and ~5% of Loeys-Dietz syndrome type 3 cases.

The SMAD3 gene encodes a TGF-beta receptor cytoplasmic effector responsible for downstream cellular signaling of the TGF-beta receptors.

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 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
SMAD3 NM_005902.3