What is Fragile X Syndrome? Fragile X Syndrome is an inherited genetic disorder that causes developmental delays, learning difficulties, and is often associated with autism spectrum disorders. It is one of the most common genetic causes of intellectual disability, affecting males more often than females.
This syndrome is caused by a change (expansion of CGG repeats) in the FMR1 gene, which affects the production of an important protein required for normal brain development. Depending on the number of repeats, an individual may be unaffected, a carrier (premutation), or affected by the syndrome.
Who should take this test? Testing is recommended for: • Children with developmental delays or learning difficulties • Individuals showing signs of autism spectrum disorders • Couples planning a pregnancy • Individuals with a family history of Fragile X or unexplained infertility
Why is the Fragile X test important? The test helps with: • Early diagnosis of developmental disorders • Identifying carriers within the family • Informed pregnancy planning • Preventing transmission of the condition to future generations
How is the Fragile X test performed? The Fragile X test is a genetic analysis • A blood sample is collected from the patient • DNA is analyzed to determine the number of CGG repeats in the FMR1 gene • It is determined whether the individual is normal, a carrier (premutation), or affected
Results Results are usually available within 40 working days
