Aortic aneurysm, aortic dissection and dissecting aneurysm of the lung aorta
Analysis ID 122
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Aortic aneurysm, aortic dissection and dissecting aneurysm of the lung aorta
OMIM %607086
Clinical information Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder, with partly overlapping phenotype to Marfan Syndrome. LDS is caused by mutations in the growth factor beta receptor genes (TGFBR1, TGFBR2). Most prominent clinical symptoms include hypertelorism, cleft palate, aortic aneurysms, skeletal anomalies (scoliosis, camptodactyly, arachnodactyly, joint laxity, craniosynostosis, foot anomalies) or congenital heart defect.
Type of analysis Molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes TGFBR2; TGFBR1
Analysis description Sequencing analysis of the selected exons of the TGFBR1; TGFBR2 genes.
Analysis indication Aortic aneurysm, aortic dissection and dissecting aneurysm of the lung artery
Analysis time 3-4 weeks
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders