How is Fragile X Syndrome Diagnosed?
FXS can be diagnosed by testing a person’s DNA from a blood sample. A physician or genetic counselor must order the test. The DNA is tested to see how many repeats are present in the FMR1 gene. If a full mutation is not detected, the physician or genetic counselor can order other tests to look for other changes in the FMR1 or the FMR2 gene. However, because these types of changes are so much less common, the other tests are not always ordered. The results of DNA tests can affect other family members and raise many issues. Therefore, anyone who is thinking about FXS testing should consider having genetic counseling prior to getting tested. The American College of Medical Genetics (ACMG) recommends who should be tested for FXS and the type of testing that should be done. Please click on the following links to learn more about testing.
