Saethre-Chotzen syndrome

Diagnosis and Testing

How do I get tested for Saethre-Chotzen Syndrome?

Genetic testing for Saethre-Chotzen syndrome is available. Ask your doctor at your next appointment if he or she is able to order genetic testing for you. Your doctor may suggest setting up an appointment with a genetic counselor, a masters-level healthcare professional who specializes in discussing genetic conditions and testing.

Genetic testing for Saethre-Chotzen is most often done by taking a blood sample from an individual’s arm, and sending it off to a lab. The lab then looks at the DNA in the blood sample and identifies if there are any small changes in the TWIST1 gene, called point mutations, or larger deletions or duplications of the genetic material of that gene. Some genetic testing labs are currently offering TWIST1 testing on saliva, or spit, samples if collected in specific containers that the labs provide. To find a genetic counselor in your area, visit: http://nsgc.org/

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More Diagnosis and Testing Content

Is there newborn testing for Saethre-Chotzen Syndrome?

Is there are more than one test for Saethre-Chotzen Syndrome?

Who else in my family should I test for Saethre-Chotzen Syndrome?

Does it matter if you test blood versus saliva versus a biopsy for Saethre-Chotzen Syndrome?

Is there newborn testing for Saethre-Chotzen Syndrome?

Newborn screening for Saethre-Chotzen is not currently available in the United States. To learn more about what conditions are offered on newborn screening, visit: http://www.cdc.gov/newbornscreening/

Is there are more than one test for Saethre-Chotzen Syndrome?

There are a few different types of genetic tests for Saethre-Chotzen that look at the TWIST1 gene in different ways. One test, called gene sequencing, looks at the individual letters that make up the gene and check for any incorrect letters, or misspellings in the gene. This test is able to detect very small changes in the gene. Another test, called deletion/duplication testing, looks for larger pieces of missing or extra material in the TWIST1 gene. Misspellings and missing or extra material from the TWIST1 gene are the most common causes of Saethre-Chotzen syndrome. Speak with your genetic counselor to learn more about genetic testing.

Who else in my family should I test for Saethre-Chotzen Syndrome?

If an individual is found to have a gene change that causes Saethre-Chotzen syndrome, their parents, siblings, and children also have a 50-50 chance (50%) of having the same gene change, and can be tested if they want to. Once it is discovered which parent passed the gene change on to the individual, that parent’s siblings and parents can also be tested. Testing of other family members is important for finding out if their future children will be at risk for also having Saethre-Chotzen. Visit a genetic counselor to coordinate testing for yourself and your family members.

Does it matter if you test blood versus saliva versus a biopsy for Saethre-Chotzen Syndrome?

Saethre-Chotzen testing can be performed by certain testing laboratories on a few different types of samples. These types of tissue include blood samples, spit or saliva samples, and skin samples. All of these different types of tissue allow the labs to get a good look at the makeup of the TWIST1 gene, as long as enough sample is sent to the lab. Speak with your genetic counselor to learn what testing would be best for you.

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