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How is Fragile X Syndrome Diagnosed?

The diagnosis of Fragile X Syndrome can be confirmed through a blood test known as FMR1 / DNA. The most common is the Chorionic Villus Sampling Tests (CVS) which would be offered to a woman who already has a child with Fragile X Syndrome or to a woman who has already been identified as being a carrier of Fragile X Syndrome.

Tests that can be performed to confirm diagnosis include:

  • DNA tests - assessing if the gene responsible for Fragile X Syndrome is inactive
  • Chromosome test - assessing if there is a broken area of a chromosome

Diagnosis is important as the children affected can receive appropriate specialist help with any problems they may be experiencing.

Once a diagnosis has been made additional assessments will be carried out by relevant professionals to assess the individual's needs and abilities in areas of development they are having difficulty in. This may involve input from:

To arrange an assessment for your child with one of our therapists please email or call 0330 088 6693.

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