Why might a child be tested for Andermann Syndrome?
Children with the symptoms of Andermann Syndrome including low muscle tone, a loss of movement, damage to the nerves responsible for movement and sensation that gets worse over time, missing reflexes, and those who have had an MRI that revealed that they were either missing or had an undeveloped area of tissue that connects the left and right sides of the brain (corpus callosum) would be candidates for SLC12A6 testing to confirm 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.