Marfan syndrome
Analysis ID 3
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Marfan syndrome
OMIM #154700
Clinical information Marfan Syndrome (MFS) is a relatively common connective tissue genetic disorder, which is characterized by large phenotypic variability. The symptoms include skeletal symptoms, such as dolichostenomelia, dolichocephaly, thorax deformation, vertebral column deformity (scoliosis and thoracic lordosis), arachnodactyly, joint laxity, cardiovascular symptoms, such as ascending aorta dilatation, aortic aneurysm, mitral valve prolapse, ventricular arrhythmias, ocular abnormalities, f.e. myopia, lens subluxation, retinal detachment.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an EDTA tube
Analyzed genes FBN1, FIBRILLIN 1
Analysis description Sequencing analysis of the FBN1 gene.
Analysis indication Symptoms of Marfan Syndrome
Analysis time to be adjusted individually
Refund No
CGM laboratory name Laboratory for Molecular Genetics