Diagnostics

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Loeys-Dietz Syndrome Panel

The Loeys-Dietz Syndrome Panel is a comprehensive next-generation (NGS) panel that can be used to confirm a clinical diagnosis of Loeys-Dietz syndrome or identify or at-risk individuals.

Loeys-Dietz syndrome is a connective tissue disorder that is characterized by enlargement of the aorta, arterial tortuosity, skeletal problems, including craniosynostosis and scoliosis, and cutaneous abnormalities. Individuals with Loeys-Dietz syndrome are at risk for aortic dissections, which can lead to sudden death, and life-threatening pregnancy complications. The features of the condition are variable from individual to individual and may become apparent in childhood or adulthood.

Included Disorders

This panel includes genes associated with:

  • Loeys-Dietz syndrome
  • Thoracic aneurysms and aortic dissections

Prevalence

The prevalence of Loeys-Dietz syndrome is unknown.

Inheritance and Penetrance

Loeys-Dietz syndrome is inherited in an autosomal dominant fashion and penetrance is typically high.

Clinical Sensitivity

A pathogenic variant can be identified in approximately 95% of Loeys-Dietz syndrome cases (Loeys and Dietz, 2008). The Loeys-Dietz syndrome panel includes all of the genes commonly associated with this condition.

Methodology and Analytical Sensitivity

Next-generation sequencing technology is used to test clinically relevant portions of each gene, including coding exons, adjacent flanking bases, and selected introns/noncoding variants. Pathogenic and likely pathogenic variants are confirmed by orthogonal methods. Copy number variants, including intragenic deletions and duplications are detected to a resolution of a single exon. To request analysis of a specific single exon copy number variant, please contact our Client Services team prior to ordering. Analytical sensitivity and specificity of the assay is >99%.

Indications for Testing

  • Confirmation of a clinical diagnosis
  • Personal or family history of aortic aneurysm and dissection
  • Risk assessment for asymptomatic family members of proband with molecular diagnosis

Included Genes (5)

SMAD3 TGFB2 TGFBR1 TGFBR2 TGFB3

 

Additions to Comprehensive Panel

Emerging evidence genes can also be added onto the Loeys-Dietz Syndrome Panel. These genes do not have a clear association with Loeys-Dietz syndrome, but emerging evidence suggests that they may play a role in the disease pathogenesis.

Emerging Evidence Gene (1)

MAT2A

 

References

  1. Loeys BL, Dietz HC. Loeys-Dietz Syndrome. 2008 Feb 28 [Updated 2013 Jul 11]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.