Short Description

NGS genetic DNA test detecets for variant and mutation detection in MYH7 gene for Myosin storage myopathy

PreTest Information

Clinical History of Patient who is going for MYH7 Gene Myosin storage myopathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with MYH7 Gene Myosin storage myopathy

Detail Description

MYH7 Gene Myosin Storage Myopathy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

MYH7 gene-related myosin storage myopathy is a rare genetic disorder that affects the muscles. This condition is caused by mutations in the MYH7 gene, which provides instructions for making a protein called beta myosin heavy chain. This protein is essential for the proper functioning of skeletal muscles. When the MYH7 gene is mutated, it can lead to the accumulation of abnormal proteins in muscle cells, which can cause muscle weakness and other symptoms.

Symptoms of MYH7 Gene Myosin Storage Myopathy

MYH7 gene myosin storage myopathy can cause a wide range of symptoms, including:

• Weakness in the muscles of the arms, legs, and trunk
• Fatigue and exhaustion
• Difficulty walking or running
• Trouble breathing
• Difficulty swallowing
• Heart problems
• Vision problems

The severity of symptoms can vary widely from person to person, even within the same family. Some people may have mild symptoms that don't interfere with their daily activities, while others may be severely disabled.

Diagnosis of MYH7 Gene Myosin Storage Myopathy

MYH7 gene myosin storage myopathy is usually diagnosed through a combination of clinical evaluation, genetic testing, and muscle biopsy. A doctor will perform a physical exam and ask about the patient's medical history and symptoms. They may also order blood tests to rule out other conditions that can cause muscle weakness.

Genetic testing is the most reliable way to diagnose MYH7 gene myosin storage myopathy. This can be done through a technique called next-generation sequencing (NGS), which can analyze large amounts of DNA quickly and accurately. NGS can detect mutations in the MYH7 gene with a high degree of accuracy.

A muscle biopsy may also be performed to confirm the diagnosis. During this procedure, a small sample of muscle tissue is removed and examined under a microscope. The presence of abnormal proteins in muscle cells can confirm the diagnosis of MYH7 gene myosin storage myopathy.

NGS Genetic DNA Test Cost for MYH7 Gene Myosin Storage Myopathy

The cost of NGS genetic DNA testing for MYH7 gene myosin storage myopathy can vary depending on the laboratory and the specific test being performed. In India, the cost of NGS testing can range from INR 10,000 to INR 30,000.

It's important to note that genetic testing for MYH7 gene myosin storage myopathy may not be covered by insurance. Patients should check with their insurance provider to see if the cost of testing is covered.

Conclusion

MYH7 gene myosin storage myopathy is a rare genetic disorder that can cause muscle weakness and other symptoms. Diagnosis is usually made through genetic testing and muscle biopsy. NGS genetic DNA testing can accurately detect mutations in the MYH7 gene. The cost of testing can vary, but patients should check with their insurance provider to see if testing is covered.

If you suspect that you or a loved one may have MYH7 gene myosin storage myopathy, it's important to speak with a healthcare professional. They can perform the necessary tests and provide guidance on treatment options.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for MYH7 Gene Myosin storage myopathy NGS Genetic DNA Test