Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATM gene for Ataxia-telangiectasia

PreTest Information

Clinical History of Patient who is going for ATM Gene Ataxia-telangiectasia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATM Gene Ataxia-telangiectasia

Detail Description

ATM Gene Ataxia-telangiectasia NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Ataxia-telangiectasia (A-T) is a rare genetic disorder that affects the nervous system, immune system, and other organs of the body. It is caused by mutations in the ATM gene, which is responsible for producing a protein that helps repair damaged DNA. A-T is usually diagnosed in childhood and can lead to severe disability and a shortened lifespan.

Symptoms of Ataxia-telangiectasia

The symptoms of A-T can vary widely from person to person, but typically include:

• Progressive difficulty with coordination and balance
• Slurred speech and difficulty swallowing
• Eye movement abnormalities
• Increased susceptibility to infections
• Delayed growth and development

In addition, many people with A-T develop small, red spider-like blood vessels called telangiectasias on their skin and in their eyes.

Diagnosis of Ataxia-telangiectasia

A-T is typically diagnosed through a combination of clinical evaluation, genetic testing, and laboratory tests. A physical exam may reveal some of the characteristic symptoms of A-T, such as balance problems or telangiectasias. A blood test can be used to look for mutations in the ATM gene.

Another important diagnostic tool is neuroimaging, such as magnetic resonance imaging (MRI), which can show abnormalities in the brain and spinal cord that are common in people with A-T.

NGS Genetic DNA Test for Ataxia-telangiectasia

Next-generation sequencing (NGS) is a powerful tool for detecting genetic mutations associated with A-T. This test can analyze the entire ATM gene to identify any mutations that may be present. NGS testing is typically done using a blood or saliva sample.

The cost of an NGS genetic DNA test for A-T in India is around INR 20,000.

Conclusion

Ataxia-telangiectasia is a rare genetic disorder that can cause significant disability and health problems. Early diagnosis is important for managing symptoms and providing appropriate medical care. NGS genetic DNA testing can be a valuable tool for identifying mutations in the ATM gene and diagnosing A-T. If you or a loved one is experiencing symptoms of A-T, talk to your healthcare provider about whether genetic testing is appropriate.

At DNA Labs India, we offer NGS genetic DNA testing for a range of genetic disorders, including Ataxia-telangiectasia. Our team of experienced genetic counselors and scientists can help you understand your test results and develop a personalized treatment plan. Contact us today to learn more.