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  • Q&A with Australian Health Practitioners

    How is Marfan syndrome diagnosed?

    Related Topics
    Congenital & Genetic Conditions Marfan Syndrome
    • 1 answer
    • Michelle O'Sullivan
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  • Michelle O'Sullivan

    Occupational Therapist (OT)

    I have extensive experience in the management of hypermobility disorders including Ehlers-Danlos Syndrome. I work exclusively with patients with hypermobility conditions. Having graduated from the … View Profile

    The gene responsible for Marfan Syndrome has been identified which means that genetic testing is available for making a diagnosis. In addition, a physician will also usually take a family history (sometimes there is no one else in the family with the same gene mutation, which indicates a new, spontaneous mutation), use diagnostic imaging, physical examination and eye examination to give a accurate picture of the syndrome at that point in time. 

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