Fragile X Syndrome (Fmri Gene)

Fragile X Syndrome (FXS) is a genetic disorder caused by a mutation in the Fragile X Mental Retardation 1 (FMR1) gene found on the X chromosome. It affects both males and females and is the most common inherited cause of intellectual disability and autism spectrum disorder. The Fragile X Syndrome (Fmri Gene) Panel is a genetic test that can identify mutations in the FMR1 gene that cause FXS.

Symptoms

The symptoms of FXS can vary in severity but often include:
1. Developmental delays
2. Intellectual disability
3. Speech and language impairment
4. Social anxiety and difficulty with social interaction
5. Behavioral problems
6. Sensory integration issues
7. Hyperactivity and impulsivity

Test Procedure

The Fragile X Syndrome (Fmri Gene) Panel requires a blood sample from the patient. A healthcare professional will draw the blood sample from a vein in the arm using a needle and collect it in a tube.

The blood sample obtained is then sent to the laboratory for testing. The Fragile X Syndrome (Fmri Gene) panel uses advanced technology to analyze the FMR1 gene for any mutations or changes. The results are usually available within 14 days after the test.

Treatment for Positive Diagnosis

There is no cure for FXS, but early interventions like behavioural therapy, speech therapy, and educational support can significantly improve the quality of life for people with FXS. For individuals with more severe symptoms, medication may also be recommended by a healthcare professional. Genetic counselling and support groups are also available for individuals and families affected by FXS.

Booking a Test on Apollo 24|7

Individuals can book the Fragile X Syndrome (Fmri Gene) panel test on the Apollo 24|7 website. The test can be booked by selecting the “Lab Tests” option and searching for the Fragile X Syndrome (Fmri Gene) panel. Once the test is booked, individuals will receive a confirmation email with all the necessary details, including the appointment date and time. The results of the test are usually available within 14 days after the test.

Benefits of Early Diagnosis

Early diagnosis of FXS can lead to early interventions, which can significantly improve the quality of life for people with FXS and their families. Early interventions also help in managing symptoms, reducing behavioural problems, and improving communication skills. Additionally, early detection of FXS can help families make informed decisions about planning for their child's future.