Short Description

NGS genetic DNA test detecets for variant and mutation detection in POLG gene for Neuropathy with sensory ataxic, dysarthria, and ophthalmoparesis

PreTest Information

Clinical History of Patient who is going for POLG Gene Neuropathy with sensory ataxic, dysarthria, and ophthalmoparesis NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POLG Gene Neuropathy with sensory ataxic, dysarthria, and ophthalmoparesis

Detail Description

POLG Gene Neuropathy: Symptoms, Diagnosis and NGS Genetic DNA Test Cost in India

POLG gene neuropathy is a rare genetic disorder that affects the nervous system. It is caused by mutations in the POLG gene, which is responsible for providing instructions to produce an enzyme called DNA polymerase gamma. This enzyme plays a critical role in replicating and repairing mitochondrial DNA. POLG gene neuropathy is characterized by a range of symptoms, including sensory ataxic, dysarthria, and ophthalmoparesis. This blog will discuss the symptoms, diagnosis, and NGS genetic DNA test cost in India for POLG gene neuropathy.

Symptoms of POLG Gene Neuropathy

The symptoms of POLG gene neuropathy can vary greatly from person to person. However, there are some common symptoms that are associated with this condition. These include:

• Sensory ataxia - difficulty coordinating movements and maintaining balance
• Dysarthria - difficulty speaking due to muscle weakness or spasticity
• Ophthalmoparesis - weakness or paralysis of the muscles that control eye movement
• Peripheral neuropathy - damage to the nerves that connect the brain and spinal cord to the rest of the body
• Seizures - abnormal electrical activity in the brain that can cause convulsions or loss of consciousness

Other symptoms may include muscle weakness, fatigue, exercise intolerance, hearing loss, and heart problems. Symptoms usually develop slowly over time and can worsen with age.

Diagnosis of POLG Gene Neuropathy

Diagnosing POLG gene neuropathy can be challenging because the symptoms can be similar to those of other neurological conditions. However, there are several tests that can be done to help diagnose this condition, including:

• Genetic testing - a blood test that can detect mutations in the POLG gene
• Electromyography (EMG) - a test that measures the electrical activity of muscles and nerves
• Magnetic resonance imaging (MRI) - a test that uses magnetic fields to produce detailed images of the brain and spinal cord
• Nerve conduction studies - a test that measures the speed and strength of electrical signals in the nerves

If a genetic mutation is found, family members may also be tested to determine if they are at risk of developing the condition.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing in India can vary depending on the provider and the type of test being performed. On average, the cost of an NGS genetic DNA test for POLG gene neuropathy in India is around INR 20,000. However, this cost may be higher or lower depending on the specific test being done.

It is important to note that NGS genetic DNA testing is not always covered by insurance, so patients should check with their insurance provider before undergoing testing. Some providers may also offer payment plans or financial assistance to help cover the cost of testing.

Conclusion

POLG gene neuropathy is a rare genetic disorder that can cause a range of symptoms, including sensory ataxic, dysarthria, and ophthalmoparesis. Diagnosis can be challenging, but genetic testing and other diagnostic tests can help identify the condition. NGS genetic DNA testing is available in India, with an average cost of around INR 20,000. If you or a loved one are experiencing symptoms of POLG gene neuropathy, it is important to speak with a healthcare provider for proper diagnosis and treatment.

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 POLG Gene Neuropathy with sensory ataxic, dysarthria, and ophthalmoparesis NGS Genetic DNA Test