Short Description

NGS genetic DNA test detecets for variant and mutation detection in MYH7 gene for Scapuloperoneal myopathy, MYH7 related

PreTest Information

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

Detail Description

MYH7 Gene Scapuloperoneal Myopathy: Symptoms, Diagnosis and DNA Test Cost

Scapuloperoneal myopathy is a rare genetic disorder that affects the muscles of the shoulder blade and the lower leg. The 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.

Symptoms of Scapuloperoneal Myopathy

The symptoms of scapuloperoneal myopathy can vary depending on the severity of the condition. Some of the common symptoms include:

• Muscle weakness in the shoulder blade and lower leg
• Difficulty walking
• Frequent falls
• Abnormal curvature of the spine
• Difficulty lifting objects
• Foot drop

These symptoms usually appear in childhood or adolescence, but in some cases, they may not develop until adulthood.

Diagnosis of Scapuloperoneal Myopathy

Diagnosing scapuloperoneal myopathy can be challenging because the symptoms are similar to those of other muscle disorders. A genetic test is the most reliable way to confirm a diagnosis.

A DNA test that looks for mutations in the MYH7 gene can confirm a diagnosis of scapuloperoneal myopathy. This test is known as a next-generation sequencing (NGS) genetic DNA test.

MYH7 Related NGS Genetic DNA Test Cost

The cost of an MYH7 related NGS genetic DNA test can vary depending on the testing facility. At DNA Labs India, the cost of this test is INR 20,000.

This test is covered by some insurance plans, so it’s important to check with your provider to see if it’s covered. If it’s not covered, there may be financial assistance programs available to help with the cost.

Conclusion

Scapuloperoneal myopathy is a rare genetic disorder that affects the muscles of the shoulder blade and lower leg. It’s caused by mutations in the MYH7 gene, and a genetic test is the most reliable way to confirm a diagnosis. The cost of an MYH7 related NGS genetic DNA test at DNA Labs India is INR 20,000. If you or a loved one is experiencing symptoms of scapuloperoneal myopathy, it’s important to talk to a doctor to determine the best course of action.

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 Scapuloperoneal myopathy, MYH7 related NGS Genetic DNA Test