Short Description

NGS genetic DNA test detecets for variant and mutation detection in GNE gene for Nonaka myopathy

PreTest Information

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

Detail Description

GNE Gene Nonaka Myopathy NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Nonaka myopathy, also known as hereditary inclusion body myopathy, is a rare genetic disorder that affects the muscles. It is caused by mutations in the GNE gene, which plays a crucial role in the production of sialic acid. Sialic acid is a sugar molecule that is important for the normal functioning of muscle cells.

The symptoms of Nonaka myopathy usually begin in early adulthood and include weakness and wasting of the muscles in the arms and legs, particularly the quadriceps muscles in the thighs. Other symptoms may include difficulty walking, falling, and problems with hand and arm movements. There may also be muscle pain and cramping.

Diagnosis

Diagnosis of Nonaka myopathy may involve a physical exam, blood tests, and imaging studies such as magnetic resonance imaging (MRI) and electromyography (EMG). However, the most reliable way to diagnose Nonaka myopathy is through genetic testing.

Genetic testing for Nonaka myopathy involves analyzing the GNE gene for mutations. This can be done using a variety of techniques, including Sanger sequencing, targeted gene sequencing, and next-generation sequencing (NGS).

NGS is a powerful technology that allows for the analysis of multiple genes at once, making it an efficient and cost-effective way to test for Nonaka myopathy. NGS can also detect rare mutations that may be missed by other methods.

Cost

The cost of NGS genetic testing for Nonaka myopathy in India can vary depending on the laboratory and the specific test being performed. On average, the cost of NGS genetic testing for Nonaka myopathy in India is around INR 20,000.

It is important to note that genetic testing may not be covered by insurance, so patients should check with their insurance provider before undergoing testing.

Conclusion

Nonaka myopathy is a rare genetic disorder that can be difficult to diagnose. However, genetic testing, particularly NGS, can provide an accurate and efficient way to diagnose the disorder. The cost of NGS genetic testing for Nonaka myopathy in India is around INR 20,000, but it is important for patients to check with their insurance provider before undergoing testing.

At DNA Labs India, we offer a range of genetic testing services, including NGS testing for Nonaka myopathy. Our state-of-the-art laboratory and experienced team of geneticists and genetic counselors ensure accurate and reliable results. Contact us today to learn more about our services.

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 GNE Gene Nonaka myopathy NGS Genetic DNA Test