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Single Gene Disorders and Disability (SGDD) |
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.
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Date: August 28, 2006
Content source: National Center on Birth Defects and Developmental
Disabilities
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