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Accurate Test Results for AGRN Gene Myasthenic syndrome, congenital NGS Genetic DNA Test
AGRN Gene Myasthenic syndrome, congenital NGS Genetic DNA Test Cost 20000 Rs
AGRN Gene Myasthenic syndrome, congenital NGS Genetic DNA Test Details
AGRN Gene Myasthenic Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India
Myasthenic syndrome, congenital is a rare genetic disorder that affects the neuromuscular junction, which is responsible for transmitting signals from the nerve cells to the muscles. This disorder is caused by mutations in the AGRN gene, which provides instructions for making a protein called agrin. Agrin plays a crucial role in the formation and maintenance of the neuromuscular junction.
Symptoms of AGRN Gene Myasthenic Syndrome
The symptoms of AGRN gene myasthenic syndrome vary widely from person to person and can range from mild to severe. Some common symptoms include:
- Muscle weakness
- Fatigue
- Difficulty breathing
- Difficulty swallowing
- Drooping eyelids
- Double vision
- Facial weakness
- Skeletal abnormalities
Diagnosis of AGRN Gene Myasthenic Syndrome
Diagnosis of AGRN gene myasthenic syndrome involves a combination of clinical evaluation, genetic testing, and imaging studies. A physician may perform a physical exam to evaluate muscle strength and reflexes, as well as neurological tests to assess nerve function. Imaging studies such as CT scans or MRI may be used to evaluate the structure of the muscles and nerves.
Genetic testing is the most definitive way to diagnose AGRN gene myasthenic syndrome. Next-generation sequencing (NGS) genetic DNA testing can identify mutations in the AGRN gene, which confirms the diagnosis. Genetic testing can also help identify carriers of the mutation and provide information for family planning.
NGS Genetic DNA Test Cost in India
The cost of NGS genetic DNA testing for AGRN gene myasthenic syndrome in India can vary depending on the laboratory and location. On average, the cost of the test is around INR 20,000. However, some insurance plans may cover the cost of genetic testing.
Conclusion
AGRN gene myasthenic syndrome is a rare genetic disorder that affects the neuromuscular junction and can cause muscle weakness, fatigue, and difficulty breathing or swallowing. Diagnosis involves a combination of clinical evaluation, genetic testing, and imaging studies, with NGS genetic DNA testing being the most definitive method. The cost of NGS genetic DNA testing in India can vary depending on the laboratory and location, but it is an important tool for confirming the diagnosis and providing information for family planning.
At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for AGRN gene myasthenic syndrome. Our team of experts is committed to providing accurate and timely results to help guide clinical decision-making and improve patient outcomes. Contact us today to learn more about our services.
