Genetic Testing for Marfan Syndrome
Marfan syndrome is an inherited disorder of the connective tissue (fibers that provide the framework and support for the body) that is estimated to occur in at least 1 in 5,000 persons.
If you have Marfan syndrome, the Bluhm Cardiovascular Institute recommends that your first-degree adult relatives (parents, siblings and children) be screened (which may include genetic testing) by a physician familiar with Marfan syndrome. Genetic testing involves sending a blood sample to a genetic testing company, which is responsible for running the test. The cost of the test is billed to your insurance company and you are responsible for paying the cost that is not covered by insurance.
The majority of patients with Marfan syndrome can be diagnosed based on clinical findings alone, but genetic testing may be able to identify the specific mutation to determine if other family members are affected.
For more information regarding Marfan syndrome and related disorders, please contact the Bluhm Cardiovascular Institute at 312-NM-HEART (664-3278) or request a first time appointment online.
In addition, the most credible source of information about Marfan syndrome is the National Marfan Foundation (NMF). Please visit the NMF website.