Short Description

NGS genetic DNA test detecets for variant and mutation detection in GAA gene for Pompe disease

PreTest Information

Clinical History of Patient who is going for GAA Gene Pompe disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Pompe disease

Detail Description

GAA Gene Pompe Disease NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Pompe disease, also known as glycogen storage disease type II, is a rare genetic disorder that affects the muscles and organs. It is caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), which is responsible for breaking down glycogen in the body. The buildup of glycogen in the muscles and organs leads to progressive muscle weakness and organ damage.

The GAA gene is responsible for producing the GAA enzyme. Mutations in the GAA gene can lead to Pompe disease. The disease is inherited in an autosomal recessive pattern, meaning both parents must carry the mutated gene for their child to develop the disease.

Symptoms

The symptoms of Pompe disease vary in severity and can range from mild to life-threatening. The disease can affect the muscles, heart, and respiratory system. Common symptoms include:

• Muscle weakness and fatigue
• Difficulty breathing
• Enlarged heart
• Difficulty swallowing
• Poor muscle tone
• Delayed motor skills

Diagnosis

Pompe disease can be diagnosed through a blood test that measures the levels of the GAA enzyme in the blood. Genetic testing can also be used to identify mutations in the GAA gene. A muscle biopsy may also be performed to confirm the diagnosis.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for Pompe disease in India is approximately INR 20,000. This test uses next-generation sequencing (NGS) technology to analyze the entire GAA gene for mutations. NGS is a high-throughput, cost-effective method that can identify multiple mutations in a single test.

Conclusion

If you or a loved one is experiencing symptoms of Pompe disease, it is important to seek medical attention. Early diagnosis and treatment can help manage symptoms and improve quality of life. DNA Labs India offers NGS genetic DNA testing for Pompe disease at an affordable cost of INR 20,000. Contact us today to learn more.

Remember, taking care of your genetic health is important and can help you live a better life.