Genetic testing for Spinal Muscular Atrophy (SMA).
Most US-born newborns are undergo testing to find out if they have certain genetic conditions. These tests vary from state to state. There is about 30 tests that are administered throughout the United States. Next year, thanks to RTI International, a new program will be available in North Carolina that adds some new genetic tests to the mix. These tests will not be mandatory.
With this new program, known as “Early Check,” spinal muscular atrophy and fragile X syndrome will join the ranks of tests already common for newborns.
This program will provide much needed evidence on early treatment. This could lead to more permanent testing that can prevent babies from having to live with this deadly disease. Often times, when babies are diagnosed with SMA it is too late. At this point, the screenings in North Carolina will be voluntary. Once this program is successful at catching spinal muscular atrophy at an early stage, it will help with implement policy changes in regards to genetic testing for SMA.
Extra screening is critical.
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