Fragile X Syndrome (From Outsource UK)

Specimen Required

2 EDTA

Fasting Required

Purpose of the Test

The fragile X syndrome test is used to diagnose fragile X syndrome, a genetic condition that causes intellectual disability and other developmental problems.

When this test is required

The test is usually requested when a person shows symptoms of fragile X syndrome, or when there is a family history of fragile X syndrome or when a woman is planning to have a child and wants to determine her risk of having a child with fragile X syndrome.

What the Test Detects

The test looks for changes or mutations in the FMR1 gene, which is responsible for producing the fragile X mental retardation protein (FMRP). Fragile X syndrome occurs when there is a mutation in the FMR1 gene, leading to a deficiency of the FMRP protein.

Preparation for the Test

There is no specific test preparation needed. However, it is recommended to inform the healthcare provider about any medications being taken before the test.

Sample Requirements

The test requires a blood sample, which is usually drawn from a vein in the arm.

Additional Notes

Fragile X syndrome is a genetic condition that cannot be cured, but early intervention and management can help improve the quality of life for affected individuals. It is recommended to discuss the test results with a healthcare provider for further guidance and treatment options.

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