Lab Test

Friedreich's Ataxia Mutation Analysis

Friedreich's Ataxia Mutation Analysis

Friedreich's ataxia (FA) is a rare genetic disorder that mainly affects the nervous system and results in movement problems. Over time, the muscle coordination (ataxia) worsens, leading to changes in gait, impaired speech, and abnormal eye movements. The disorder also affects the heart, causing hypertrophic cardiomyopathy that can result in heart failure.

  • Test NameFriedreich's Ataxia Mutation Analysis
  • Sample TypeBlood
  • Preparations RequiredNo special preparation is needed. You can eat and drink normally before the test.
  • Report Time9 days

A Friedreich's Ataxia Mutation Analysis is a type of genetic test that checks for mutations in the FXN gene, which has been linked to the condition. This gene provides instructions for the production of a protein called frataxin. Frataxin is critical in cells' energy factories, known as mitochondria.

In people with Friedreich's ataxia, a specific area of the FXN gene (a sequence of "GAA") is repeated too many times. This test, therefore, primarily identifies the presence of these excessive GAA repeats in the FXN gene.

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Frequently Asked Questions

The Friedreich's Ataxia Mutation Analysis is critical in confirming a diagnosis of Friedreich's ataxia. It helps in detecting mutations in the FXN gene, thus providing conclusive evidence for the condition.

No, fasting is not required for this test.

There is no specific preparation needed for this test.

This test is typically ordered when a person shows symptoms of Friedreich's ataxia, such as unsteady gait, frequent falling, speech problems, and heart disease, particularly if there's a known family history of the condition.

This test can identify if there are excess GAA repeats in the FXN gene, a characteristic indicator of Friedreich's ataxia.

This test is generally a one-time test used for diagnostic purposes.

No specific precautions are needed for this test.

This is a genetic test, so the results are not typically affected by lifestyle or environmental factors.

If test results are abnormal, a geneticist or a neurologist should be consulted for further evaluation and management.

Mutations in the FXN gene, specifically the over-repetition of the GAA sequence, leads to decreased production of the frataxin protein, impairing mitochondrial function and leading to the symptoms seen in Friedreich's ataxia.

This test can detect the genetic mutations associated with Friedreich's ataxia even before symptoms appear, particularly in individuals with a known family history of the condition.

The test involves a standard blood draw, which may cause minor discomfort and slight bruising at the puncture site.

The test is highly reliable in detecting the presence of mutations in the FXN gene.

No, this test is specific to the mutations in the FXN gene associated with Friedreich's ataxia.

There's currently no cure for Friedreich's ataxia. However, managing the symptoms and slowing the progression of the disease are possible with medical interventions.

Friedreich's Ataxia Mutation Analysis is a critical tool in diagnosing this genetic disorder. It provides valuable information about the genetic makeup of a person, allowing for an accurate diagnosis and informing treatment strategies. If you or a loved one is suspected to have Friedreich's ataxia, this test can provide a definitive answer, guiding the course of action to take for managing the condition effectively. As always, if you have any concerns or queries about this test, you should discuss them with your doctor.

Friedreich's Ataxia Mutation Analysis
₹ 7500
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