Andermann syndrome

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.

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More Diagnosis and Testing Content

Is there newborn testing for Andermann Syndrome?

Is there more than one genetic test for Andermann Syndrome?

Who else in my family should I test for Andermann Syndrome?

How are children tested for Andermann Syndrome?

Is there newborn testing for Andermann Syndrome?

Andermann Syndrome is not currently available on newborn screening. However, children with symptoms of Andermann Syndrome should have a neurological exam, an MRI of the brain, tests to look for nerve damage and subsequent genetic testing.

Is there more than one genetic test for Andermann Syndrome?

Andermann Syndrome is caused by gene changes in the SLC12A6 gene. For families of French-Canadian origin, testing can be done to look for specific changes in the gene that are known to be in those populations. For people of other ethnic backgrounds, looking at the entire gene may be more helpful.

Who else in my family should I test for Andermann Syndrome?

Carriers of autosomal recessive conditions such as Andermann Syndrome generally do not show symptoms of the condition and are unaware that they carry a change in the gene responsible. Family members of those who have a relative with Andermann Syndrome may wish to know whether they are carriers of a change in the SLC12A6 gene for family planning purposes.

How are children tested for Andermann Syndrome?

Children 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 followed by genetic testing to look for changes in the SLC12A6 gene.

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