Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATXN3 gene for Spinocerebellar ataxia type 3, autosomal dominant

PreTest Information

Clinical History of Patient who is going for ATXN3 Gene Spinocerebellar ataxia type 3, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATXN3 Gene Spinocerebellar ataxia type 3, autosomal dominant

Detail Description

ATXN3 Gene: Spinocerebellar Ataxia Type 3

Spinocerebellar Ataxia Type 3 (SCA3) is a rare genetic disorder that affects the nervous system, specifically the cerebellum. It is caused by a mutation in the ATXN3 gene, which leads to a buildup of abnormal proteins in the brain. SCA3 is also known as Machado-Joseph disease and is inherited in an autosomal dominant manner.

Symptoms of SCA3

The symptoms of SCA3 can vary from person to person, but generally, they include:

• Difficulty with coordination and balance
• Trouble with speech and swallowing
• Muscle stiffness and spasms
• Weakness in the limbs
• Difficulty with eye movements
• Mental impairment

These symptoms usually develop gradually over time and can worsen as the disease progresses. The age of onset can vary, but SCA3 usually begins in adulthood, typically between the ages of 30 and 40.

Diagnosis of SCA3

Diagnosis of SCA3 can be challenging as it is a rare disease with symptoms that can be similar to other neurological conditions. A neurological exam, genetic testing, and imaging studies such as MRI can help diagnose SCA3. Genetic testing is the most reliable way to diagnose SCA3 as it can detect the mutation in the ATXN3 gene.

NGS Genetic DNA Test for SCA3

Next-generation sequencing (NGS) is a powerful tool for genetic testing, and it can be used to detect mutations in the ATXN3 gene. DNA Labs India offers an NGS Genetic DNA Test for SCA3 at a cost of INR 20,000. The test can provide a definitive diagnosis of SCA3 and can help individuals and their families make informed decisions about their healthcare.

Conclusion

SCA3 is a rare genetic disorder that can have a significant impact on a person's quality of life. Genetic testing, such as the NGS Genetic DNA Test offered by DNA Labs India, can provide a reliable diagnosis of SCA3 and help individuals and their families make informed decisions about their healthcare. If you or a loved one are experiencing symptoms of SCA3, it is essential to seek medical attention and consider genetic testing.

For more information about the NGS Genetic DNA Test for SCA3, please contact DNA Labs India.