Aarskog syndrome

Diagnosis and Testing

How many laboratories in the United States perform genetic testing for Aarskog syndrome?

As of May 2019, genetic testing is available for the FDG1 gene that caused 20% of cases of Aarskog syndrome. As new information is learned about the syndrome, further genes may be identified that cause Aarskog syndrome. The best way to obtain genetic testing is to speak with you doctor or contact a medical geneticist or genetic counselor. A medical geneticists can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

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