Marfan syndrome

Diagnosis and Testing

If your doctor suspects that you may have Marfan syndrome, testing can be considered. A diagnosis of Marfan syndrome can be made by a specialist with experience with the condition, such as a geneticist (a doctor with training in genetic conditions). Sometimes, a specialist can make a diagnosis based on an individual's symptoms because there are a number of set criteria that allow for a clinical diagnosis of Marfan syndrome. Other times, genetic testing may be considered. It may be important during the testing process for Marfan syndrome to have an echocardiogram (ultrasound of the heart) and evaluation by an ophthalmologist (eye disease specialist) to look for other symptoms of the condition.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/marfan-syndrome/diagnosis-testing/6904 • DATE UPDATED: 2016-06-13

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