G-TSF; LDS4; TGF-beta2
The TGFB2 gene is associated with autosomal dominant Loeys-Dietz syndrome (LDS) type 4 (MedGen UID: 766676).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic TBF2 variants are a rare cause of Loeys-Dietz syndrome.
The TGFB2 gene encodes the transforming growth factor beta 2, a multifunctional protein expressed in several embryonic and adult organs involved in cell growth, differentiation, and migration; remodeling of cell matrix; apoptosis; epithelial-mesenchymal transition; and wound healing in a tissue-specific manner.
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|