Aarskog syndrome

Diagnosis and Testing

How does someone get tested for Aarskog syndrome?

Genetic testing for Aarskog syndrome is typically ordered by a geneticist and genetic counselor after seeing them for an appointment. A clinic appointment typically involves a complete review of the patient's medical history, a three generation family history that documents health problems and genetic conditions, a detailed physical examination, discussion of recommended testing, and consent for genetic testing if the patient/guardian is interested. Sometimes this happens in one clinic visit, and sometimes this happens over the span of a few clinic visits. Each clinic is different. In terms of insurance, sometimes the clinic checks with your insurance, and sometimes it is your responsibility to call your insurance. As stated earlier, each clinic operates differently. If genetic testing is pursued, a blood sample and signed paperwork is sent to a laboratory that performs the testing. Results are then sent back to the geneticist and genetic counselor who contacts the patient or the patient's guardian with results. 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.

Making Sense of Your Genes: A Guide to Genetic Counselling. National Society of Genetic Counselors; Genetic Alliance. Washington (DC): Genetic Alliance; 2008.

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