Because your baby had a not normal screening test result for SMA, a second test is needed to be sure if your baby has that condition. If you give permission for your baby to have this second, confirmatory test, we will need to collect a sample of your baby's blood. After the test is completed, a genetic counselor from our team will meet with you to help you understand the test results and give you support. An Early Check team doctor will also give your baby a medical exam to see how he or she is doing.

What will happen if you give permission for your baby to have a confirmatory test for SMA, and you consent to have genetic counseling about the test results?

• You will bring your baby to an appointment at the University of North Carolina at Chapel Hill. A nurse will draw a small amount of blood (about a teaspoon) from your baby to do the confirmatory testing.
• Some of your baby’s blood sample will be sent to the North Carolina State Laboratory, where the Early Check screening test was done, for a second test for SMA in order to make sure the screening test is working correctly.
• The rest of the sample will be given an ID number (to link the sample to your baby without putting your baby’s name on it) and will be sent to the Ohio State University Molecular Genetics Laboratory. They will use a different test to confirm if your baby has SMA. 
• We use both tests to make sure our results are correct. Any leftover blood will be kept at the laboratories until the Early Check study ends, and then it will be destroyed.
• A medical geneticist (a doctor with special training in genetic conditions) will meet with you during the visit to UNC. This doctor will ask you some questions about your baby and do a medical exam of your baby.
• About 1 week after this visit, when the results of the second test are ready, a genetic counselor (a specialist in discussing genetic conditions with families) will meet with you to help you understand the test results and what this genetic condition may mean for your baby and you.
• If the second test confirms that your baby has SMA, you will be asked to sign a form called a HIPAA waiver. This will allow the Early Check team to tell your baby’s healthcare provider about the test results and add the results to your baby’s electronic health record at the University of North Carolina at Chapel Hill.