Short Description

NGS genetic DNA test detecets for variant and mutation detection in CAV3 gene for Myopathy, distal, Tateyama type

PreTest Information

Clinical History of Patient who is going for CAV3 Gene Myopathy, distal, Tateyama type NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CAV3 Gene Myopathy, distal, Tateyama type

Detail Description

CAV3 Gene Myopathy, distal, Tateyama type NGS Genetic DNA Test

CAV3 Gene Myopathy is a rare genetic disorder that affects the muscles. It is caused by mutations in the CAV3 gene, which provides instructions for making a protein called caveolin-3. This protein is found in muscle cells and helps to maintain their structure and function.

Symptoms of CAV3 Gene Myopathy

The symptoms of CAV3 Gene Myopathy can vary widely depending on the specific mutation involved. Some common symptoms include:

• Muscle weakness, especially in the hands and feet
• Difficulty walking or running
• Stiffness or rigidity in the muscles
• Pain or cramping in the muscles
• Difficulty breathing, especially during exercise

These symptoms usually appear in childhood or adolescence, but may not become apparent until later in life.

Diagnosis of CAV3 Gene Myopathy

Diagnosis of CAV3 Gene Myopathy is typically done through genetic testing. This involves analyzing a sample of the patient's DNA to look for mutations in the CAV3 gene. Other tests, such as muscle biopsies and electromyography (EMG), may also be used to confirm the diagnosis and assess the severity of the disease.

NGS Genetic DNA Test

The NGS Genetic DNA Test is a next-generation sequencing test that can analyze large amounts of genetic data quickly and accurately. This test can be used to identify mutations in the CAV3 gene that are associated with CAV3 Gene Myopathy. The cost of the test is INR 20,000.

Treatment of CAV3 Gene Myopathy

Currently, there is no cure for CAV3 Gene Myopathy. Treatment is focused on managing the symptoms and slowing the progression of the disease. This may include physical therapy, medications, and assistive devices such as braces or wheelchairs. In some cases, surgery may be necessary to correct severe muscle deformities.

Conclusion

CAV3 Gene Myopathy is a rare genetic disorder that affects the muscles. It can cause a range of symptoms, including muscle weakness, stiffness, and difficulty breathing. Diagnosis is typically done through genetic testing, and treatment is focused on managing the symptoms. The NGS Genetic DNA Test can be used to identify mutations in the CAV3 gene and is available at a cost of INR 20,000.

If you suspect that you or a loved one may have CAV3 Gene Myopathy, it is important to speak with a healthcare professional for proper diagnosis and treatment.