Fredreichs Ataxia Mutation Antibody in Halol

Sterling Accuris Diagnostics now offers Fredreich's Ataxia Mutation Antibody Test in Halol, an advanced diagnostic tool for detecting Fredreich's Ataxia (FRDA).

Overview of the Fredreich's Ataxia Mutation Antibody Test

Fredreich's ataxia (FRDA) is a neurodegenerative disorder progressively affecting the nervous system and heart. It's caused by an FXN gene defect responsible for making a protein called frataxin. Most people with FRDA have an abnormal repetition of a DNA segment (GAA trinucleotide repeat) in the frataxin gene, located on chromosome 9q13.

This genetic mutation disrupts the average production of frataxin, leading to issues in the mitochondria (the cell's energy-producing structures) and an accumulation of iron in these mitochondria. However, this iron buildup doesn't extend to the whole body or organs.

The main effects of this condition include degeneration of the spinal cord and cerebellum (parts of the brain that control movement) and a high risk of heart disease (cardiomyopathy). Testing for mutations in the frataxin gene using Fredreich's Ataxia Mutation Antibody Test in Halol is very reliable and is vital in confirming a diagnosis of FRDA in most cases.

Why and When is the Fredreich's Ataxia Mutation Antibody Test Done?

This test is recommended for:

• Individuals exhibiting symptoms suggestive of Fredreich's Ataxia, such as difficulty walking, speech problems, and heart issues.
• Patients with a family history of FRDA, as it is a genetically inherited condition.
• Monitoring the progression or severity of the disease in diagnosed patients.

Fredreich's Ataxia Mutation Antibody Test: Main Highlights

• Instructions: No special fasting or preparation is required. A doctor’s prescription is essential.
• Recommended Age: Suitable for individuals of all ages, especially those with symptoms indicative of FRDA.
• Sample Type for Test: A simple blood sample.
• TAT: Results are typically available within a few weeks.

FAQs

What does a positive test result mean?

A positive result indicates the presence of antibodies against the mutated frataxin protein, supporting a diagnosis of Fredreich's Ataxia.

How does this test help in managing FRDA?

Detecting these antibodies can aid in assessing the progression and severity of the disease, which is crucial for planning appropriate treatment and management strategies.

Which methods are used for this test?

The Fredreich's Ataxia Mutation Antibody Test typically employs two primary methods: Polymerase Chain Reaction (PCR) and Immunoassay techniques.

Are there any risks associated with this test?

The test involves a standard blood draw, a common and minimally invasive procedure.

Choosing Sterling Accuris Diagnostics in Halol for Fredreich's Ataxia Testing

Sterling Accuris Diagnostics is at the forefront of genetic testing with its advanced diagnostic capabilities. Our commitment to accuracy and reliability ensures that patients receive precise diagnostic care. We offer a convenient home collection service in Halol for a comfortable testing experience.

Ensure accurate diagnosis and effective management of Fredreich's Ataxia. Book your Fredreich's Ataxia Mutation Antibody Test in Halol with Sterling Accuris.