Short Description

NGS genetic DNA test detecets for variant and mutation detection in CHRNA1 gene for Myasthenic syndrome, congenital, slow-channel

PreTest Information

Clinical History of Patient who is going for CHRNA1 Gene Myasthenic syndrome, congenital, slow-channel NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CHRNA1 Gene Myasthenic syndrome, congenital, slow-channel

Detail Description

Understanding Myasthenic Syndrome, Congenital, Slow-Channel and the Role of CHRNA1 Gene

Myasthenic syndrome, congenital, slow-channel is a rare genetic disorder that affects the neuromuscular junction, causing muscle weakness and fatigue. It is caused by mutations in the CHRNA1 gene, which is responsible for encoding a subunit of the acetylcholine receptor in the neuromuscular junction.

Symptoms of Myasthenic Syndrome, Congenital, Slow-Channel

The symptoms of myasthenic syndrome, congenital, slow-channel vary in severity and onset. Generally, the symptoms include:

• Muscle weakness and fatigue, which worsen with activity and improve with rest
• Difficulty breathing, especially during physical activity or sleep
• Difficulty swallowing or speaking
• Facial weakness and drooping
• Double vision or other vision problems
• Difficulty holding up the head or neck

Diagnosis of Myasthenic Syndrome, Congenital, Slow-Channel

Myasthenic syndrome, congenital, slow-channel is diagnosed through a combination of physical exams, laboratory tests, and genetic testing. A physician will examine the patient’s muscle strength and reflexes, as well as their breathing and swallowing abilities. Blood tests can also be done to check for antibodies that may be causing the symptoms.

The definitive diagnosis, however, is made through genetic testing. Specifically, next-generation sequencing (NGS) genetic testing can identify mutations in the CHRNA1 gene that are causing the symptoms. This test is highly accurate and can identify even rare mutations that may be missed by other genetic testing methods.

The Role of DNA Labs India in Myasthenic Syndrome, Congenital, Slow-Channel Diagnosis

DNA Labs India is a leading provider of genetic testing services in India. We offer a comprehensive NGS genetic test for myasthenic syndrome, congenital, slow-channel that includes screening for mutations in the CHRNA1 gene. Our test is highly accurate and can provide a definitive diagnosis for patients with suspected myasthenic syndrome, congenital, slow-channel.

Our test is also affordable, with a cost of only INR 20,000. We believe that genetic testing should be accessible to all patients, and we strive to provide our services at an affordable price point.

Conclusion

Myasthenic syndrome, congenital, slow-channel is a rare genetic disorder that can cause muscle weakness and fatigue. It is caused by mutations in the CHRNA1 gene, which can be identified through NGS genetic testing. DNA Labs India offers an affordable and accurate genetic test for myasthenic syndrome, congenital, slow-channel that can provide a definitive diagnosis for patients with suspected symptoms. If you or a loved one are experiencing symptoms of myasthenic syndrome, congenital, slow-channel, contact DNA Labs India today to learn more about our genetic testing services.