How is Fragile X diagnosed?
Fragile X Syndrome is diagnosed by a blood test that looks at the patient’s chromosomes and especially at the X chromosome in the area of the FMR-1 gene. For any child with mental retardation of unknown cause, looking at the chromosomes (called karyotyping) may provide valuable information. However, karyotyping alone may not be sensitive enough to detect mutations to the FMR-1 gene. The test specifically for Fragile X Syndrome is a DNA molecular analysis for FMR-1 gene. If there is a family history of Fragile X Syndrome , then testing may be done prenatally.
