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CHAT Gene Myasthenic syndrome, congenital NGS Genetic DNA Test Cost 20000 Rs
CHAT Gene Myasthenic syndrome, congenital NGS Genetic DNA Test Details
CHAT Gene Myasthenic Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost
Myasthenic syndrome, congenital is a rare genetic disorder that affects the neuromuscular junction, which is responsible for transmitting signals from the nerves to the muscles. This disorder is caused by mutations in the CHAT gene, which encodes for an enzyme called choline acetyltransferase that is essential for the synthesis of acetylcholine, a neurotransmitter that is required for muscle contraction.
Symptoms of CHAT Gene Myasthenic Syndrome
The symptoms of CHAT gene myasthenic syndrome can vary depending on the severity of the condition. Some common symptoms include:
- Muscle weakness
- Fatigue
- Difficulty breathing
- Difficulty swallowing
- Facial weakness
- Scoliosis
- Joint contractures
These symptoms usually appear in infancy or early childhood and can worsen over time.
Diagnosis of CHAT Gene Myasthenic Syndrome
Diagnosis of CHAT gene myasthenic syndrome involves a combination of clinical evaluation, electrophysiological testing, and genetic testing. The clinical evaluation includes a physical examination and a review of the patient's medical history and symptoms. Electrophysiological testing involves measuring the electrical activity of the muscles and nerves.
Genetic testing is the most accurate way to diagnose CHAT gene myasthenic syndrome. Next-generation sequencing (NGS) genetic testing can detect mutations in the CHAT gene and other genes associated with myasthenic syndromes. NGS genetic testing is a comprehensive and efficient way to diagnose genetic disorders and can provide results in a timely manner.
NGS Genetic DNA Test Cost for CHAT Gene Myasthenic Syndrome
The cost of NGS genetic testing for CHAT gene myasthenic syndrome can vary depending on the laboratory and the specific test ordered. At DNA Labs India, the cost of NGS genetic testing for CHAT gene myasthenic syndrome is INR 20,000.
NGS genetic testing is a valuable tool for the diagnosis of genetic disorders such as CHAT gene myasthenic syndrome. It can provide accurate and timely results that can help guide treatment and management decisions.
Conclusion
CHAT gene myasthenic syndrome is a rare genetic disorder that affects the neuromuscular junction. Symptoms can vary in severity and can worsen over time. Diagnosis involves a combination of clinical evaluation, electrophysiological testing, and genetic testing. NGS genetic testing is the most accurate way to diagnose CHAT gene myasthenic syndrome and can provide results in a timely manner. The cost of NGS genetic testing for CHAT gene myasthenic syndrome at DNA Labs India is INR 20,000.
Early diagnosis and management of CHAT gene myasthenic syndrome can improve outcomes and quality of life for patients. If you or a loved one is experiencing symptoms of myasthenic syndrome, it is important to seek medical attention and consider genetic testing.
For more information on CHAT gene myasthenic syndrome and NGS genetic testing, contact DNA Labs India today.
