Analysis ID 121
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness LOEYS-DIETZ SYNDROME
OMIM #609192
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 TGFBR1; TGFBR2
Analysis description Sequencing analysis of the selected exons of the TGFBR1 and TGFBR2 genes.
Analysis indication Symptoms of Loeys-Dietz syndrome
Analysis time 3-4 weeks
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders