Diagnosis and Testing
Is there more than one test for Aarskog syndrome?
As of May 2019, there is only one gene, FGD1, that is currently known to be associated with Aarskog syndrome. Genetic testing involves analyzing this gene for changes. There are two different types of analyses of this gene; these are called sequencing and deletion/duplication. You can imagine the FGD1 gene as a long sentence that provides instruction to the body. Sequencing looks for spelling errors in this sentence. Deletion/duplication involves looking for extra or missing words in this sentence. Spelling errors and extra/missing words can cause the sentence to no longer make sense and therefore no longer provide the proper instruction for the body, causing Aarskog syndrome. Some labs in the United States offer both sequencing and deletion/duplication of the FGD1 gene. Some labs in the United States just offer sequencing or deletion/duplication of the FGD1 gene.
If there is a known FGD1 gene mutation in the family, other family members can easily be tested. However, it will be important to have a copy of the FGD1 gene report in order to pursue testing in other family members. A genetic counselor or medical geneticist can help you coordinate testing in the family. 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.