Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATXN2 gene for Spinocerebellar ataxia type 2, autosomal dominant

PreTest Information

Clinical History of Patient who is going for ATXN2 Gene Spinocerebellar ataxia type 2, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATXN2 Gene Spinocerebellar ataxia type 2, autosomal dominant

Detail Description

ATXN2 Gene Spinocerebellar Ataxia Type 2: Symptoms, Diagnosis, and Genetic Testing Cost

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant genetic disorder that affects the nervous system. It is caused by a mutation in the ATXN2 gene, which provides instructions for making a protein called ataxin-2. This protein is important for the normal functioning of nerve cells in the cerebellum, a part of the brain that controls movement and coordination.

Symptoms of SCA2

The symptoms of SCA2 can vary widely, depending on the age of onset and the severity of the disease. Some common symptoms include:

• Difficulty with coordination and balance
• Trouble walking or standing
• Slurred speech
• Problems with eye movements
• Tremors or jerky movements
• Cognitive impairment

These symptoms can gradually worsen over time, leading to significant disability and reduced quality of life.

Diagnosis of SCA2

SCA2 is diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies. A neurologist or other healthcare provider will perform a physical exam and ask about symptoms and family history. They may also order imaging tests such as a CT scan or MRI to assess the structure of the brain.

The most definitive way to diagnose SCA2 is through genetic testing. This involves analyzing a sample of DNA from the patient to look for mutations in the ATXN2 gene. If a mutation is found, it confirms the diagnosis of SCA2.

Genetic Testing Cost for SCA2

Genetic testing for SCA2 is typically done using next-generation sequencing (NGS) technology, which allows for rapid and accurate analysis of large amounts of DNA. The cost of NGS-based genetic testing for SCA2 in India is approximately INR 20,000.

It is important to note that genetic testing is not always covered by insurance, and the cost may vary depending on the laboratory and specific testing method used. Patients should check with their healthcare provider and insurance company to determine coverage and costs.

Conclusion

SCA2 is a rare but debilitating genetic disorder that affects the nervous system. Early diagnosis and genetic testing can help patients and their families better understand the disease and plan for the future. The cost of NGS-based genetic testing for SCA2 in India is approximately INR 20,000, but patients should check with their healthcare provider and insurance company to determine coverage and costs.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS-based testing for SCA2 and other genetic disorders. Our experienced team of genetic counselors and laboratory technicians can provide guidance and support throughout the testing process. Contact us today to learn more.