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Accurate Test Results for CHRND Gene Myasthenic syndrome, congenital, type 3A, slow channel NGS Genetic DNA Test
CHRND Gene Myasthenic syndrome, congenital, type 3A, slow channel NGS Genetic DNA Test Cost 20000 Rs
CHRND Gene Myasthenic syndrome, congenital, type 3A, slow channel NGS Genetic DNA Test Details
CHRND Gene Myasthenic Syndrome, Congenital, Type 3A, Slow Channel NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis
Myasthenic Syndrome, Congenital, Type 3A, Slow Channel is a rare genetic disorder that affects the neuromuscular junction, resulting in muscle weakness and fatigue. It is caused by mutations in the CHRND gene, which provides instructions for making a protein that forms a part of the acetylcholine receptor. This receptor is crucial for the transmission of nerve impulses to the muscles. Mutations in the CHRND gene disrupt the normal functioning of the acetylcholine receptor, leading to the symptoms of the disorder.
The symptoms of Myasthenic Syndrome, Congenital, Type 3A, Slow Channel vary in severity and can range from mild to severe. The most common symptoms include:
- Muscle weakness
- Fatigue
- Difficulty breathing
- Difficulty swallowing
- Difficulty speaking
Diagnosis of Myasthenic Syndrome, Congenital, Type 3A, Slow Channel is usually done through genetic testing. At DNA Labs India, we offer NGS Genetic DNA Test for CHRND Gene Myasthenic Syndrome, Congenital, Type 3A, Slow Channel at a cost of INR 20000. This test is highly accurate and can identify mutations in the CHRND gene that are associated with the disorder.
If you or a loved one is experiencing symptoms of Myasthenic Syndrome, Congenital, Type 3A, Slow Channel, it is important to seek medical attention and get tested for the disorder. Early diagnosis and treatment can help manage the symptoms and improve the quality of life.
At DNA Labs India, we are committed to providing accurate and affordable genetic testing services. Our team of experienced genetic counselors and scientists can guide you through the testing process and provide you with the support you need. Contact us today to learn more about our NGS Genetic DNA Test for CHRND Gene Myasthenic Syndrome, Congenital, Type 3A, Slow Channel.
Congenital myasthenic syndromes (CMS) are a group of rare genetic disorders that affect the neuromuscular junction, the point where nerve cells connect with muscles. These syndromes result in muscle weakness and fatigue, particularly during repetitive movements. Mutations in the CHRND gene have been associated with a specific subtype of CMS known as congenital myasthenic syndrome type 3A, slow-channel type.
The CHRND gene encodes a subunit of the acetylcholine receptor, which is essential for the transmission of signals from nerves to muscles. Mutations in this gene can lead to altered functioning of the acetylcholine receptor, disrupting neuromuscular transmission and causing muscle weakness.
Features of congenital myasthenic syndrome type 3A, slow-channel type, can include:
- Muscle weakness and fatigue
- Difficulty with breathing and swallowing
- Variable severity of symptoms
- Potentially improved muscle function with anticholinesterase medications
NGS (Next-Generation Sequencing) genetic DNA testing can help identify mutations in the CHRND gene associated with congenital myasthenic syndrome type 3A, slow-channel type. Genetic testing is an important tool for confirming the diagnosis and understanding the underlying genetic cause of the syndrome.
If you suspect that you or someone you know might have congenital myasthenic syndrome type 3A, slow-channel type, it's important to consult with a neurologist, medical geneticist, or healthcare professional with expertise in neuromuscular disorders. They can provide appropriate genetic testing, medical management, and supportive care recommendations tailored to the individual's needs.
