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Fragile X Syndrome Test

Umm Al Hamam Al Gharbi, Riyadh - 145KM

What is the Fragile X Syndrome Test?
The Fragile X Syndrome Test is a genetic test used to diagnose Fragile X Syndrome (FXS), the most common inherited form of intellectual disability. The test detects mutations in the FMR1 gene, particularly the expansion of the CGG trinucleotide repeat, which causes the condition. It can be performed using blood samples and is important for identifying carriers and individuals affected by the syndrome.

Importance of Testing
Early diagnosis of Fragile X can help with early intervention and personalized treatment strategies.

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