Athena Diagnostics now offers an SMA Carrier Plus test that offers increased sensitivity which is especially helpful for certain populations (e.g. African Americans) with lower clinical sensitivity to the SMA Carrier test alone . The SMA Carrier Plus test is also helpful for couples looking for an added level of assurance about their SMA Carrier test results because SMA Carrier Plus picks up an additional 5% of carriers missed by the SMA standard deletion test. This new diagnostic testing option can detect deletions as well as "point mutations," thus providing a higher detection rate of 95% overall.
While there are limitations to the test, the SMA Carrier Plus test will inform you of your carrier status with a higher degree of certainty than the standard SMA Carrier test alone. The test is conducted in a reflexive manner, which means that if the first part of the test identifies a positive (carrier) result, testing stops and you are charged only for this step of the test. If either portion of the test returns a positive result, you should seek counseling from your doctor or a genetic counselor to discuss the significance of your results and the options available to you.
Individuals or couples identified as carriers may choose prenatal testing to determine if the mutations have been inherited by the child. Athena offers superior prenatal testing services and will provide the SMN2 copy number with this result, which may be helpful in determining the severity of the disorder.
For more information about the SMA Carrier Plus test, contact an Athena genetic counselor or laboratory director to learn more.
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