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  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
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TGFBR2

Alias

AAT3; FAA3; LDS1B; LDS2; LDS2B; MFS2; RIIC; TAAD2; TGFR-2; TGFbeta-RII

Associated disorders

The TGFBR2 gene is associated with autosomal dominant Loeys-Dietz syndrome (LDS) type 1B (MedGen UID: 390653) and thoracic aortic aneurysms and aortic dissections (TAAD) (MedGen UID: 468423).

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TGFBR2

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Invitae tests that include this gene:

Pathogenic TGFBR2 variants are associated with ~70% of clinical cases of Loeys-Dietz syndrome and 4% of cases of thoracic aortic aneurysms and aortic dissections.

The TGFBR2 gene encodes transforming growth factor beta receptor 2 protein, a transmembrane receptor protein with serine-threonine kinase activity which plays an important role in cellular proliferation, differentiation and extracellular matrix production.

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
TGFBR2 NM_003242.5; NM_001024847.2