Fragile X Carrier Screening

Screening whether the mother is a Fragile X carrier is indicated if there is suspicious cases in the family:

  • Fragile X individual in the family
  • Unexplained mental retardation and development delay
  • Autism
  • Premature ovarian failure

The test performed is a simple blood test. If the test does come back positive for Fragile X carrier, the parents should have genetic counselling and subsequent prenatal diagnosis if applicable.