In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015. We will resume our normal schedule on Tuesday, September 8, 2015. If you have any questions or inquiries, please call us at 301-519-2100 or email us at firstname.lastname@example.org.
Loeys-Dietz Syndrome Panel
FORMS AND DOCUMENTS
- TGFBR1, TGFBR2
- Clinical Utility:
- 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
- Lab Method:
- Capillary Sequencing
- Clinical Sensitivity:
- Test Code:
- Turnaround Time:
- 8-9 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- New York Approved:
- ABN Required:
- Billing Information:
- View Cardiology Billing Policy
- ICD Codes:
- 441.5: Aortic aneurysm of unspecified site, ruptured Rupture of aorta NOS
- 754.81: Pectus excavatum Congenital funnel chest
- 512.8: Other spontaneous pneumothorax Pneumothorax
- 701.3: Striae atrophicae, Atrophic spots of skin, Atrophoderma maculatum, Atrophy blanche (of Milian), Degenerative colloid atrophy, Senile degenerative atrophy, Striae distensae
- 759.82: Marfan syndrome
- 379.32: Subluxation of lens
- 737.43: Scoliosis
- 441.00: Unspecified site
- 441.9: Aortic aneurysm of unspecified site without mention of rupture Aneurysm Dilatation of aorta, Hyaline necrosis of aorta
- 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.
- 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.
- 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.
- Van Hemelrijk C et al. The Loeys-Dietz syndrome: An update for the clinician. Curr Opin Cardiol 25:546-551, 2010.
- Boileau C et al. Molecular genetics of Marfan syndrome. Curr Opin Cardiol. 20:194-200, 2005.
- 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.
- 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.
- 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.
- 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.
- 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.
- Loeys BL et al. Aneurysm syndromes caused by mutations in the TGF-Beta receptor N Eng J Med 355(8):788-798, 2006.
- 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.