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.
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.
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)
- 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.