Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACTA1 gene for Myopathy with fiber-type disproportion

PreTest Information

Clinical History of Patient who is going for ACTA1 Gene Myopathy with fiber-type disproportion NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ACTA1 Gene Myopathy with fiber-type disproportion

Detail Description

ACTA1 Gene Myopathy with Fiber-Type Disproportion: NGS Genetic DNA Test Cost INR 20,000

ACTA1 Gene Myopathy with Fiber-Type Disproportion is a rare genetic disorder that affects muscle function. It is caused by a mutation in the ACTA1 gene, which provides instructions for making a protein called actin. Actin is essential for the contraction of muscles. This disorder is characterized by muscle weakness, delayed motor milestones, and poor muscle tone. The symptoms of ACTA1 Gene Myopathy with Fiber-Type Disproportion can vary widely from person to person. Some people may experience only mild weakness, while others may have severe muscle weakness and difficulty walking.

Symptoms of ACTA1 Gene Myopathy with Fiber-Type Disproportion

The symptoms of ACTA1 Gene Myopathy with Fiber-Type Disproportion can include:

• Muscle weakness
• Delayed motor milestones
• Poor muscle tone
• Difficulty walking
• Difficulty breathing
• Facial weakness

Diagnosis of ACTA1 Gene Myopathy with Fiber-Type Disproportion

The diagnosis of ACTA1 Gene Myopathy with Fiber-Type Disproportion involves a combination of tests, including:

• Physical examination
• Electromyography (EMG)
• Muscle biopsy
• Genetic testing

NGS Genetic DNA Test for ACTA1 Gene Myopathy with Fiber-Type Disproportion

Next-generation sequencing (NGS) genetic DNA testing is a highly accurate method for diagnosing ACTA1 Gene Myopathy with Fiber-Type Disproportion. This test can detect mutations in the ACTA1 gene with a high degree of accuracy. The NGS Genetic DNA Test for ACTA1 Gene Myopathy with Fiber-Type Disproportion is available at DNA Labs India.

Cost of NGS Genetic DNA Test for ACTA1 Gene Myopathy with Fiber-Type Disproportion

The cost of the NGS Genetic DNA Test for ACTA1 Gene Myopathy with Fiber-Type Disproportion at DNA Labs India is INR 20,000.

Conclusion

ACTA1 Gene Myopathy with Fiber-Type Disproportion is a rare genetic disorder that affects muscle function. The symptoms of this disorder can vary widely from person to person. The diagnosis of ACTA1 Gene Myopathy with Fiber-Type Disproportion involves a combination of tests, including NGS Genetic DNA testing. The cost of the NGS Genetic DNA Test for ACTA1 Gene Myopathy with Fiber-Type Disproportion at DNA Labs India is INR 20,000. If you or a loved one are experiencing symptoms of this disorder, it is important to seek medical attention and get tested for a proper diagnosis.

For more information on the NGS Genetic DNA Test for ACTA1 Gene Myopathy with Fiber-Type Disproportion or to schedule an appointment at DNA Labs India, please visit our website or contact us directly.