Fragile X Syndrome Test

Updated: Jun 30


What is Fragile-X Syndrome?

  • Fragile-X syndrome is the second most common hereditary condition, next to Down syndrome, that causes intellectual disability and developmental disorder

  • X chromosome(sex chromosome) dominant.

  • The prevalence is 1 in 4,000~6,000 for men, and 1 in 8,000~12,000 for women

What causes Fragile-X Syndrome?


Mutation in the FMR1 gene located on the X chromosome(Sex chromosome)

  • Mutation: Number of 'CGG' repeat expansion in FMR1 gene

- Normal < 45

- Intermediate ≥45 and <55

- Permutation ≥55 and ≤200

- Pathologic >200


Normal, Intermediate, Permutation : The subject may not show symptoms of Fragile-X syndrome, but may pass on the repeat expansion to future generation


Pathologic: Shows symptoms of Fragile-X syndrome


Why do we need Fragile-X Syndrome test?


1) Even if I (Mother) do not have Fragile X symptoms, my child can be affected.

The intermediate and carrier mothers do not express symptoms and appear normal. However, the CGG repeats are amplified as it gets passed down the generations. So, there is higher chance of my child being affected.


2) It is important to know if I (Mother) am a carrier of Fragile X syndrome. In carrier women, there is an increased risk of early menopause before 40 and ovarian dysfunctions. It’s been reported that approximately 20% go through early menopause


Download the required documents through the link below!

This test can be performed upon request from a medical doctor.



#Fragile-X Syndrome screening test#FX#TNR#Prenatal Health#Prenatal Carrier Screening test

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