Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL6A6 gene for Myopathy, COL6A6 related

PreTest Information

Clinical History of Patient who is going for COL6A6 Gene Myopathy, COL6A6 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with COL6A6 Gene Myopathy, COL6A6 related

Detail Description

COL6A6 Gene Myopathy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

COL6A6 gene myopathy is a rare genetic disorder that affects the muscles and connective tissues. It is caused by mutations in the COL6A6 gene, which provides instructions for making a protein called collagen VI.

Symptoms of COL6A6 Gene Myopathy

The symptoms of COL6A6 gene myopathy can vary widely depending on the severity of the condition. Some people may have mild symptoms that do not significantly affect their daily lives, while others may experience more severe symptoms that limit their mobility and quality of life.

Common symptoms of COL6A6 gene myopathy include:

• Muscle weakness and wasting
• Joint contractures
• Scoliosis
• Breathing difficulties
• Delayed motor development
• Difficulty walking or standing

Diagnosis of COL6A6 Gene Myopathy

Diagnosing COL6A6 gene myopathy can be challenging because it is a rare disorder and its symptoms can be similar to other neuromuscular conditions. A combination of tests may be used to diagnose the condition, including:

• Physical examination
• Electromyography (EMG)
• Nerve conduction studies
• Muscle biopsy
• Genetic testing

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing for COL6A6 gene myopathy in India can vary depending on the laboratory and the type of test performed. On average, the cost of NGS genetic DNA testing for COL6A6 gene myopathy in India ranges from INR 15,000 to INR 25,000.

DNA Labs India is a leading genetic testing laboratory in India that offers NGS genetic DNA testing for COL6A6 gene myopathy. The cost of the test at DNA Labs India is INR 20,000.

Conclusion

COL6A6 gene myopathy is a rare genetic disorder that can cause muscle weakness, joint contractures, scoliosis, breathing difficulties, and delayed motor development. Diagnosing the condition can be challenging, but a combination of tests, including genetic testing, can help confirm the diagnosis. NGS genetic DNA testing for COL6A6 gene myopathy is available in India, and the cost of the test at DNA Labs India is INR 20,000.

If you or a loved one is experiencing symptoms of COL6A6 gene myopathy, speak to your healthcare provider about genetic testing options and contact DNA Labs India for more information about NGS genetic DNA testing.