Loeys-Dietz Syndrome Panel

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Differentiation of a fibrillinopathy (including Marfan syndrome) from related connective tissue disorders such as Loeys-Dietz syndrome, and Ehlers-Danlos syndrome vascular type
  • Presymptomatic testing; Identification of family members at risk for Marfan syndrome to allow for appropriate screening and management
  • Recurrence risk assessment
  • Prenatal diagnosis in families with a known mutation in the TGFBR1 or TGFBR2 genes
  • Capillary Sequencing


8-9 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Brushes


  • 441.9 Aortic aneurysm of unspecified site without mention of rupture Aneurysm Dilatation of aorta, Hyaline necrosis of aorta
  • 441.5 Aortic aneurysm of unspecified site, ruptured Rupture of aorta NOS
  • 759.82 Marfan syndrome
  • 512.8 Other spontaneous pneumothorax Pneumothorax
  • 754.81 Pectus excavatum Congenital funnel chest
  • 737.43 Scoliosis
  • 701.3 Striae atrophicae, Atrophic spots of skin, Atrophoderma maculatum, Atrophy blanche (of Milian), Degenerative colloid atrophy, Senile degenerative atrophy, Striae distensae
  • 379.32 Subluxation of lens
  • 441.00 Unspecified site
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  1. Goudie DR et al. Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGRBR1. Nat Genet 43:365-369, 2011.
  2. de Paepe A et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 62:417-426, 1996. Loeys BL The revised Ghent Nosology for the Marfan syndrome. J Med Genet 47:476-485, 2010.
  3. Loeys BL et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37(3):275-281, 2005.
  4. Van Hemelrijk C et al. The Loeys-Dietz syndrome: An update for the clinician. Curr Opin Cardiol 25:546-551, 2010.
  5. Boileau C et al. Molecular genetics of Marfan syndrome. Curr Opin Cardiol. 20:194-200, 2005.
  6. Arbustini E et al. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. Hum Mut. 26:494-509, 2005.
  7. Stheneur C et al. Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. Eur J Hum Genet. 17:1121-1128, 2009.
  8. Akutsu K et al. Genetic analysis of young adult patients with aortic disease not fulfilling the diagnostic criteria for Marfan syndrome. Circulation 74:990-997, 2010.
  9. Faivre L et al. Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. Eur J Hum Genet. 17:491-501, 2009.
  10. Matyas G et al. Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Hum Genet. 122:23-32, 2007.
  11. Loeys BL et al. Aneurysm syndromes caused by mutations in the TGF-Beta receptor N Eng J Med 355(8):788-798, 2006.
  12. Sthenuer C et al. Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. Hum Mutat 29:E284-E295, 2008.