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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


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)



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)




  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.