Lab Test

Fragile X (FMR1) Mutation Screen

Fragile X (FMR1) Mutation Screen

Fragile X Syndrome (FXS) is a genetic condition associated with intellectual disability, behavioral and learning challenges, as well as specific physical characteristics. It is the most common known single-gene cause of autism and inherited intellectual disability. The FMR1 Mutation Screen is a diagnostic test that identifies the mutations in the FMR1 gene that cause FXS.

  • Test NameFragile X (FMR1) Mutation Screen
  • Sample TypeBlood
  • Preparations RequiredThere are no specific instructions for this test. Your doctor will guide you if any special preparation is needed.
  • Report Time7 days

The FMR1 gene, located on the X chromosome, typically contains a certain number of CGG repeats. However, in individuals with Fragile X Syndrome, this number is significantly higher. The FMR1 mutation screen helps detect the increased number of CGG repeats in the FMR1 gene.

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Sample Collection by Phlebotomist
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Reporting of the sample at lab
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Frequently Asked Questions

This test is essential in diagnosing Fragile X Syndrome, a common cause of inherited intellectual disability. Knowing whether an individual carries the FMR1 mutation can inform appropriate treatment and management strategies, and also provide information on the likelihood of passing the condition to offspring.

No, fasting is not required for this test.

No specific preparation is needed for this test. It involves a simple blood draw.

This test is typically done when a child shows symptoms of Fragile X Syndrome, such as developmental delays, learning disabilities, or behavioral issues. It can also be done for individuals with a family history of Fragile X Syndrome or unexplained intellectual disabilities.

This test measures the number of CGG repeats in the FMR1 gene. An increased number of repeats is associated with Fragile X Syndrome.

This test is usually only performed once, for diagnostic purposes.

As the test involves a blood draw, there is minimal risk of discomfort, bruising, or infection at the injection site.

This test is genetic and the results are not generally affected by lifestyle factors. However, lab errors, although rare, can occur.

If your Fragile X (FMR1) Mutation Screen results are abnormal, it would be advisable to consult a genetic counselor or a medical geneticist.

Symptoms can vary and may include intellectual disability, behavioral and learning challenges, anxiety, ADHD, and autism. Physical features might include a long face, large ears, and flat feet.

No, medications will not affect the results of this genetic test.

While there is no cure for Fragile X Syndrome, treatments can improve symptoms and include educational therapy, behavioral therapy, and medication.

Complications can include learning disabilities, behavioral issues, anxiety, ADHD, and a higher likelihood of developing autism. Physical complications might include heart problems and connective tissue issues.

While there is no cure for Fragile X Syndrome, interventions can often improve symptoms and enhance quality of life.

Yes, a positive result generally indicates that your child has Fragile X Syndrome. However, the extent of symptoms can vary significantly between individuals.

Identifying the FMR1 mutation is the first step toward managing Fragile X Syndrome. Early diagnosis can help in implementing the right interventions and therapies, thereby improving the quality of life of those affected. Always remember to discuss the results with your doctor who can provide guidance on the next steps.

Fragile X (FMR1) Mutation Screen
₹ 7000
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