AAT5; ACVRLK4; ALK-5; ALK5; ESS1; LDS1; LDS1A; LDS2A; MSSE; SKR4; TGFR-1; tbetaR-I
The TGFBR1 gene is associated with autosomal dominant thoracic aortic aneurysms and aortic dissections (TAAD) (MedGen UID: 468423), Loeys-Dietz syndrome (LDS) (MedGen UID: 395828), and multiple self-healing squamous epithelioma (MedGen UID: 154270).
Pathogenic TGFBR1 variants are associated with ~20% of clinical cases of LDS and are a rare cause of TAAD.
The TGFBR1 gene encodes transforming growth factor beta receptor 1 protein, a transmembrane serine-threonine kinase receptor involved in TGF-beta signaling and mediation of the induction of several genes involved in cell-matrix interactions.
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|