What is analysed?

The genetic study of Fragile X syndrome evaluates the FMR1 gene to determine if there are any alterations or mutations associated with the syndrome.

What does the result mean?

A positive result indicates the presence of alterations in the FMR1 gene, which may suggest the presence of Fragile X syndrome or carrier status.

Why undergo the analysis?

The analysis is conducted to diagnose Fragile X syndrome, especially in individuals with symptoms suggestive of the condition or a family history of Fragile X syndrome.

When to undergo the analysis?

The analysis is recommended when there are clinical indications of Fragile X syndrome or when individuals are planning to have children and want to assess their risk of transmitting the condition.

What sample is required?

The analysis requires a blood sample.

Is any prior preparation necessary?

No specific preparation is required for the genetic study of Fragile X syndrome. However, individuals may need to consult with a genetic counsellor before the test to understand its implications fully.

How is it used?

The analysis identifies alterations in the FMR1 gene, which helps diagnose Fragile X syndrome and determine the risk of passing the condition to offspring.

What are the normal values?

Normal values indicate the absence of alterations in the FMR1 gene.

The number of CGG repeats in the FMR1 gene varies, but a normal range typically falls within 5 to 44 repeats.

Genetic study of Fragile X syndrome parameters

This table summarises the normal range of CGG repeats in the FMR1 gene evaluated during the genetic study of Fragile X syndrome.

What do altered values signify?

Altered values may indicate the presence of Fragile X syndrome or carrier status. Individuals with a higher number of CGG repeats (above 200) may have the full mutation associated with Fragile X syndrome.