Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACTA1 gene for Nemaline myopathy type 3

PreTest Information

Clinical History of Patient who is going for ACTA1 Gene Nemaline myopathy type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ACTA1 Gene Nemaline myopathy type 3

Detail Description

ACTA1 Gene Nemaline Myopathy Type 3 NGS Genetic DNA Test: Cost, Symptoms, and Diagnosis

Nemaline myopathy is a rare genetic disorder that affects the skeletal muscles. It is caused by mutations in various genes, including the ACTA1 gene. Nemaline myopathy type 3 is a subtype of this disorder that is caused by mutations in the ACTA1 gene. In this blog, we will discuss the symptoms, diagnosis, and cost of the NGS genetic DNA test for ACTA1 gene Nemaline myopathy type 3.

Symptoms of Nemaline Myopathy Type 3

Nemaline myopathy type 3 is characterized by muscle weakness and low muscle tone (hypotonia) at birth. Other symptoms may include:

• Delayed motor milestones
• Poor muscle tone in the face and throat
• Difficulty swallowing and breathing
• Scoliosis (curvature of the spine)
• Joint contractures (stiff joints that cannot be fully extended)
• Weakness in the muscles used for breathing

Diagnosis of Nemaline Myopathy Type 3

Nemaline myopathy type 3 is diagnosed through a combination of physical examination, medical history, and genetic testing. A muscle biopsy may also be performed to confirm the diagnosis.

The NGS genetic DNA test for ACTA1 gene Nemaline myopathy type 3 is a highly accurate way to diagnose this disorder. This test uses next-generation sequencing technology to analyze the DNA sequence of the ACTA1 gene and identify any mutations that may be causing the disorder.

Cost of NGS Genetic DNA Test for ACTA1 Gene Nemaline Myopathy Type 3

The cost of the NGS genetic DNA test for ACTA1 gene Nemaline myopathy type 3 in India is approximately INR 20,000. This cost may vary depending on the testing facility and other factors.

Conclusion

Nemaline myopathy type 3 is a rare genetic disorder that can cause significant muscle weakness and other complications. If you or someone you know is experiencing symptoms of this disorder, it is important to seek medical attention as soon as possible. The NGS genetic DNA test for ACTA1 gene Nemaline myopathy type 3 is a highly accurate way to diagnose this disorder and can help healthcare providers develop an effective treatment plan.

At DNA Labs India, we offer a wide range of genetic testing services, including the NGS genetic DNA test for ACTA1 gene Nemaline myopathy type 3. Our team of experienced professionals is committed to providing accurate and timely results to help our clients make informed decisions about their health. Contact us today to learn more about our services.

For more such informative blogs, stay tuned to DNA Labs India.