
Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Marfan's syndrome other diagnostic studies
Introduction
Editors-In-Chief: William James Gibson, C. Michael Gibson, M.S., M.D.
Overview
Overview
Other Diagnostic Studies
Other Diagnostic Studies
Molecular Diagnostics
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.
References
References
Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [1]Â ; Cassandra Abueg, M.P.H. [2]
