Diagnostics·Diagnostics
Fragile X testing
Informed by recognized medical guidance
Overview
Fragile X testing is a genetic test that looks for changes in the FMR1 gene that cause Fragile X syndrome, a condition that can lead to learning disabilities, developmental delays, and behavioral challenges. The test is usually done on a blood sample.
Key facts
- Fragile X syndrome is the most common inherited cause of intellectual disability.
- The condition affects people differently – some have mild learning difficulties, while others need more support.
- Fragile X testing can identify carriers – people who have the gene change but may not show symptoms – which is important for family planning.
Fragile X syndrome is not very common. It affects about 1 in 4,000 males and 1 in 8,000 females worldwide.
Fragile X syndrome typically affects males more severely than females. However, both males and females can be carriers of the gene change, and some females may have mild symptoms. People of any ethnic background can have Fragile X.