Short Description

NGS genetic DNA test detecets for variant and mutation detection in DYSF gene for Miyoshi myopathy

PreTest Information

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

Detail Description

DYSF Gene Miyoshi Myopathy NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Miyoshi myopathy is a rare genetic disorder that affects skeletal muscles. It is caused by mutations in the DYSF gene that is responsible for encoding a protein called dysferlin. Dysferlin is a vital component of muscle cell membranes, and its deficiency leads to muscle weakness and wasting. The disease is named after Dr. Kiyoshi Miyoshi, a Japanese neurologist who first described it in 1967.

Symptoms of Miyoshi Myopathy

The symptoms of Miyoshi myopathy usually appear in early adulthood, typically between the ages of 15 to 30. The most common symptom is muscle weakness and wasting in the calves, followed by the thighs, buttocks, and shoulders. The disease progresses slowly, and the weakness becomes more severe over time. Other symptoms may include:

• Difficulty rising from a sitting or lying position
• Difficulty walking or running
• Pain and stiffness in the muscles
• Elevated levels of creatine kinase in the blood

Diagnosis of Miyoshi Myopathy

Diagnosis of Miyoshi myopathy involves a combination of clinical evaluation, genetic testing, and muscle biopsy. The doctor will first evaluate the patient's symptoms and medical history and conduct a physical examination. Blood tests may be performed to check for elevated levels of creatine kinase, a muscle enzyme that is released when muscle fibers are damaged.

Genetic testing is essential for confirming the diagnosis of Miyoshi myopathy. The DYSF gene is analyzed using next-generation sequencing (NGS) technology to identify mutations. NGS is a high-throughput method that can sequence multiple genes simultaneously and is highly accurate.

Muscle biopsy may also be performed to examine the muscle tissue under a microscope. This can help to confirm the diagnosis and rule out other muscle disorders.

DYSF Gene Miyoshi Myopathy NGS Genetic DNA Test Cost INR: 20000

The cost of the DYSF gene Miyoshi myopathy NGS genetic DNA test in India is around INR 20000. This test is available at various DNA labs in India and can be ordered by a doctor or genetic counselor. The test involves collecting a blood or saliva sample from the patient, which is sent to the lab for analysis. The results are usually available within a few weeks.

Conclusion

Miyoshi myopathy is a rare genetic disorder that affects skeletal muscles and is caused by mutations in the DYSF gene. The disease is characterized by muscle weakness and wasting, which typically appears in early adulthood. Diagnosis involves a combination of clinical evaluation, genetic testing, and muscle biopsy. The DYSF gene Miyoshi myopathy NGS genetic DNA test is available in India at a cost of around INR 20000 and can help to confirm the diagnosis.