Marfan Syndrome (MFS) is a spectrum of disorders caused by a genetic defect of the connective tissue and it is inherited in an autosomal dominant pattern. Since the connective tissue is the tissue that helps body growth as well as serving as a scaffold for cells and organs, Marfan Syndrome is a pleiotropic syndrome affecting mainly musculoskeletal, cardiac and ocular systems. The most severe of these manifestations include aortic root dilation and dissection, which are responsible for early patient demise. Pregnancy is a time of increased cardiovascular risk for women with Marfan syndrome, so an early diagnosis is key in pregnancy management.
The Igenomix Marfan Syndrome Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of connective tissue disorders due to their overlapping phenotypic features ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The clinical utility of this panel is:
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