Diagnosis and Testing
Is there newborn testing for Aarskog syndrome?
Each state has a newborn screen which includes a group of genetic conditions. Aarskog syndrome is not included in any newborn screens in the United States. If there is a family history of Aarskog syndrome or if Aarskog syndrome is suspected at birth, genetic testing can be performed using cord blood or another blood sample. Contacting a genetic counselor or medical geneticist before the baby is born will be helpful to find out how best to coordinate testing at birth in your area. 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.