Marfan's syndrome other diagnostic studies

Editors-In-Chief: William James Gibson, C. Michael Gibson, M.S., M.D.

Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [1] ; Assistant Editor-In-Chief: Cassandra Abueg, M.P.H. [2]

Molecular diagnostics, namely DNA sequencing can be extremely informative for the diagnosis of Marfan syndrome. A 2008 study showed that while only 79% of known probands could be diagnosed with Marfan syndrome using clinical criteria, 90% of these individuals could be diagnosed using the international criteria when sequencing data was added. In children, this figure leapt from 56% to 85% with sequencing data. The increased diagnostic sensitivity conferred by genetic information promises to be especially useful in children who have not developed clinical manifestations, but in whom new pharmacological interventions may be successful.

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