Short Description

NGS genetic DNA test detecets for variant and mutation detection in DES gene for Myopathy, myofibrillar, Desmin related

PreTest Information

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

Detail Description

DES Gene Myopathy – Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

DES Gene Myopathy is a rare genetic disorder that affects the skeletal muscles. It is also known as Myofibrillar Myopathy or Desmin-related Myopathy. This disorder is caused by mutations in the DES gene, which provides instructions for making a protein called desmin. Desmin is an important component of the muscle cells, providing them with structural support and helping them to contract and relax.

Symptoms of DES Gene Myopathy typically appear in adulthood, usually between the ages of 30 and 40. These symptoms can include:

• Muscle weakness and wasting, particularly in the upper arms, upper legs, and neck
• Difficulty swallowing
• Shortness of breath
• Heart palpitations
• Abnormal heart rhythms
• Vision problems
• Hearing loss

Diagnosis of DES Gene Myopathy is typically made through a combination of physical examination, medical history, and genetic testing. A muscle biopsy may also be performed to look for changes in the muscle tissue that are characteristic of this disorder.

NGS Genetic DNA Testing is a highly accurate and sensitive method of detecting mutations in the DES gene. This test uses Next Generation Sequencing technology to sequence the entire DES gene, allowing for the detection of small mutations that may be missed by other testing methods.

The cost of NGS Genetic DNA Testing for DES Gene Myopathy in India is approximately INR 20,000. This cost may vary depending on the testing facility and any additional testing or consultations that may be required.

If you or a loved one is experiencing symptoms of DES Gene Myopathy, it is important to seek medical attention as soon as possible. Early diagnosis and treatment can help to manage symptoms and prevent further muscle damage.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS Genetic DNA Testing for DES Gene Myopathy. Our team of experienced genetic counselors and scientists are dedicated to providing accurate and reliable testing results, along with compassionate support and guidance throughout the testing process.

Contact us today to learn more about our genetic testing services and how we can help you and your family.

Conclusion

DES Gene Myopathy is a rare genetic disorder that can cause significant muscle weakness and other symptoms. Early diagnosis and treatment are essential for managing symptoms and preventing further muscle damage. NGS Genetic DNA Testing is a highly accurate and sensitive method of detecting mutations in the DES gene, and can be a valuable tool for diagnosing this disorder. If you or a loved one is experiencing symptoms of DES Gene Myopathy, contact DNA Labs India today to learn more about our genetic testing services and how we can help.