Diagnostics

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Marfan Syndrome Panel

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

Marfan syndrome is a connective tissue disorder that is characterized by skeletal, cardiovascular, pulmonary, and ocular findings. Individuals with Marfan syndrome typically have tall stature, and may have ectopia lentis, retinal detachment, scoliosis, and chest wall deformities. Individuals with Marfan syndrome are at risk for sudden death related to aortic aneurysm and dissection. The features of Marfan syndrome are highly variable between affected individuals.

Included Disorders

This panel includes genes associated with:

  • Marfan syndrome

Prevalence

The prevalence of Marfan syndrome is approximately 1 in 5,000 to 1 in 10,000 individuals (Nijbroek et al, 1995).

Inheritance and Penetrance:

Marfan syndrome is inherited in an autosomal dominant fashion. Penetrance is typically high.

Clinical Sensitivity

A pathogenic mutation can be identified in 70-93% of Marfan syndrome cases (Arslan-Kirchner et al, 2011).

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 or dissection
  • Risk assessment for asymptomatic family members of proband with molecular diagnosis

Included Genes (1)

FBN1

 

References

  1. Arslan-Kirchner M, Arbustini E, Boileau C, Child A, Collod-Beroud G, De Paepe A, Epplen J, Jondeau G, Loeys B, Faivre L. Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes. Eur J Hum Genet. 2011;19(10) [FBN1]
  2. Nijbroek, G., et.al. (1995). “Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.” Am J Hum Genet 57(1): 8-21.