Is There Genetic Testing for Marfan Syndrome?

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Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring. Preimplantation genetic diagnosis, the technique of choice, can ensure an unaffected pregnancy. Genetic testing can tell you whether you have a mutation in a different but related gene, but it cannot tell you the course or severity or even which Marfan features you will develop, even if you can confirm the same genetic mutation as a family member. Consult a genetic counselor or a medical geneticist familiar with Marfan syndrome and the related connective tissue disorders if you decide genetic testing is something you'd like to pursue. Keyword: genetic testing marfan syndrome