Short Description

NGS genetic DNA test detecets for variant and mutation detection in BAG3 gene for Myopathy, myofibrillar type 6

PreTest Information

Clinical History of Patient who is going for BAG3 Gene Myopathy, myofibrillar type 6 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with BAG3 Gene Myopathy, myofibrillar type 6

Detail Description

BAG3 Gene Myopathy, Myofibrillar Type 6 NGS Genetic DNA Test

BAG3 gene myopathy, myofibrillar type 6 is a rare genetic disorder that affects muscle function. It is caused by mutations in the BAG3 gene, which provides instructions for making a protein that helps to maintain the structure and function of muscle cells. This disorder can cause progressive muscle weakness and wasting, leading to difficulty with movement and breathing.

Symptoms of BAG3 Gene Myopathy, Myofibrillar Type 6

The symptoms of BAG3 gene myopathy, myofibrillar type 6 can vary widely, but they usually begin in adulthood. Common symptoms include:

• Weakness in the arms and legs
• Difficulty with movement
• Difficulty swallowing
• Shortness of breath
• Heart problems

The severity of symptoms can vary from person to person, even within families with the same mutation. Some people may have mild symptoms that do not significantly affect their daily lives, while others may have severe symptoms that make it difficult to perform basic tasks.

Diagnosis of BAG3 Gene Myopathy, Myofibrillar Type 6

The diagnosis of BAG3 gene myopathy, myofibrillar type 6 is usually made through a combination of clinical examination, genetic testing, and muscle biopsy. The genetic testing is usually done using next-generation sequencing (NGS) technology, which can identify mutations in the BAG3 gene. Muscle biopsy can also help to confirm the diagnosis by showing characteristic changes in the muscle fibers.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for BAG3 gene myopathy, myofibrillar type 6 can vary depending on the laboratory and the specific test being performed. However, on average, the cost of this test in India is around INR 20,000.

Conclusion

BAG3 gene myopathy, myofibrillar type 6 is a rare genetic disorder that can cause progressive muscle weakness and wasting. Early diagnosis through NGS genetic DNA testing is important for proper management and treatment of the disorder. If you or someone you know is experiencing symptoms of BAG3 gene myopathy, myofibrillar type 6, it is important to speak with a healthcare provider about genetic testing and treatment options.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for BAG3 gene myopathy, myofibrillar type 6. Our team of experts uses the latest technology and techniques to provide accurate and reliable results. Contact us today to learn more about our services and how we can help you.