Description
Why It’s Done
This test is recommended to:
• Diagnose Fragile X syndrome, the most common inherited cause of intellectual disability and autism spectrum disorders.
• Evaluate individuals (children or adults) with:
o Developmental delays
o Speech and language difficulties
o Intellectual disability
o Unexplained autism or behavioral issues
• Screen family members of a person diagnosed with Fragile X.
• Aid in genetic counseling and determine carrier status, especially in women with a family history of X-linked conditions or infertility issues.
Preparation
• No special preparation is required.
• A blood sample is collected, usually from a vein in the arm.
• Inform your doctor of any relevant family history of developmental delays, intellectual disability, or known genetic conditions
