Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACTA1 gene for Myopathy, scapulohumeroperoneal

PreTest Information

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

Detail Description

ACTA1 Gene Myopathy: Symptoms, Diagnosis and NGS Genetic DNA Test Cost in India

ACTA1 gene myopathy, also known as nemaline myopathy type 3, is a rare genetic disorder that affects the muscles. It is caused by mutations in the ACTA1 gene, which provides instructions for making a protein called skeletal alpha-actin. This protein is essential for the normal development and function of skeletal muscle cells.

Symptoms of ACTA1 Gene Myopathy

The symptoms of ACTA1 gene myopathy can vary greatly from person to person. Some people may have mild symptoms that do not significantly affect their daily life, while others may have severe symptoms that limit their ability to move and perform daily activities.

Common symptoms of ACTA1 gene myopathy include:

• Muscle weakness
• Difficulty breathing
• Delayed motor development
• Scoliosis
• Facial weakness
• Swallowing difficulties
• Respiratory infections
• Low muscle tone
• Joint contractures

Diagnosis of ACTA1 Gene Myopathy

ACTA1 gene myopathy can be diagnosed through genetic testing. A blood or saliva sample is taken from the patient and sent to a laboratory for analysis. Next-generation sequencing (NGS) is commonly used to identify mutations in the ACTA1 gene. This type of genetic testing can detect mutations in multiple genes simultaneously, making it faster and more cost-effective than traditional genetic testing methods.

Other diagnostic tests that may be used to confirm a diagnosis of ACTA1 gene myopathy include:

• Electromyography (EMG)
• Nerve conduction studies
• Muscle biopsy
• CT or MRI scans

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing for ACTA1 gene myopathy in India is approximately INR 20,000. However, the cost may vary depending on the laboratory and the specific tests that are ordered. It is important to speak with a healthcare professional or genetic counselor to determine the most appropriate testing strategy for each individual case.

Conclusion

ACTA1 gene myopathy is a rare genetic disorder that can cause a range of symptoms, from mild to severe. Genetic testing, including NGS, can be used to diagnose the condition and guide treatment decisions. If you or someone you know is experiencing symptoms of ACTA1 gene myopathy, it is important to speak with a healthcare professional or genetic counselor to determine the most appropriate testing and treatment options.