Diagnosis and Testing
Who should be tested for Andermann Syndrome?
Individuals who have symptoms related to Andermann Syndrome will generally have a neurological exam, an MRI of the brain to look at the tissue connecting the left and right sides of the brain (corpus callosum), and electrophysiologic studies to confirm the presence of nerve damage. This is followed by genetic testing to look for changes in the SLC12A6 gene to verify the diagnosis. A genetic professional near you can help to discuss and coordinate testing. A medical geneticist 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.