Marfan syndrome (MFS) – analysis of two exons (28 and 29) of the FBN1 gene
Analysis ID 296
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Marfan syndrome (MFS) – analysis of two exons (28 and 29) of the FBN1 gene
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 abnormalities, 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; DNA sample
Analyzed genes FBN1, FIBRILLIN 1
Analysis description Analysis consists of sequencing of the exons 28 and 29 of the FBN1 gene
Analysis indication In case of Marfan syndrome symptoms
Analysis time 3 to 4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics