Short Description

NGS genetic DNA test detecets for variant and mutation detection in TDP1 gene for Spinocerebellar ataxia with axonal neuropathy, autosomal recessive

PreTest Information

Clinical History of Patient who is going for TDP1 Gene Spinocerebellar ataxia with axonal neuropathy, autosomal recessive NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TDP1 Gene Spinocerebellar ataxia with axonal neuropathy, autosomal recessive

Detail Description

TDP1 Gene Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive NGS Genetic DNA Test

Spinocerebellar ataxia with axonal neuropathy, autosomal recessive (SCAN1) is a rare genetic disorder that affects the nervous system. It is caused by mutations in the TDP1 gene, which provides instructions for making an enzyme that helps repair DNA damage. When the TDP1 gene is mutated, the enzyme is unable to function properly, leading to the accumulation of damaged DNA in nerve cells.

Symptoms

The symptoms of SCAN1 can vary widely, even among people with the same genetic mutation. Some common symptoms include:

• Difficulty with coordination and balance
• Trouble walking
• Numbness or tingling in the arms and legs
• Weakness in the muscles
• Difficulty speaking
• Vision problems
• Hearing loss
• Difficulty swallowing

These symptoms usually start in early childhood and get worse over time. In some cases, people with SCAN1 may also develop other health problems, such as seizures or heart disease.

Diagnosis

SCAN1 is usually diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies. A doctor may perform a neurological exam to check for signs of ataxia, weakness, or other symptoms. Genetic testing can confirm the presence of a TDP1 gene mutation. Imaging studies, such as magnetic resonance imaging (MRI) or computed tomography (CT) scans, may be used to look for changes in the brain or spinal cord.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for SCAN1 in India is approximately INR 20,000. However, the cost may vary depending on the testing facility and any additional testing that may be required.

Conclusion

SCAN1 is a rare genetic disorder that can cause a variety of symptoms, including difficulty with coordination and balance, weakness, and vision problems. It is caused by mutations in the TDP1 gene and can be diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies. An NGS genetic DNA test for SCAN1 typically costs around INR 20,000 in India.

If you or someone you know is experiencing symptoms of SCAN1, it is important to speak with a healthcare provider. Early diagnosis and management of symptoms can help improve quality of life and prevent complications.

For more information on genetic testing and DNA labs in India, visit DNA Labs India.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for TDP1 Gene Spinocerebellar ataxia with axonal neuropathy, autosomal recessive NGS Genetic DNA Test