Short Description

NGS genetic DNA test detecets for variant and mutation detection in CHRND gene for Myasthenic syndrome, congenital, type 3C, associated with acetylcholine receptor deficiency

PreTest Information

Clinical History of Patient who is going for CHRND Gene Myasthenic syndrome, congenital, type 3C, associated with acetylcholine receptor deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CHRND Gene Myasthenic syndrome, congenital, type 3C, associated with acetylcholine receptor deficiency

Detail Description

Understanding CHRND Gene Myasthenic Syndrome, Congenital, Type 3C, Associated with Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, Type 3C, Associated with Acetylcholine Receptor Deficiency is a rare genetic disorder that affects the muscles of the body. It is caused by a mutation in the CHRND gene, which is responsible for producing a protein that helps nerve cells communicate with muscles.

This genetic disorder affects the neuromuscular junction, which is the point where nerve cells meet muscle cells. It leads to a decrease in the number of acetylcholine receptors on the muscle cells, which makes it difficult for nerve cells to communicate with the muscles.

Symptoms of CHRND Gene Myasthenic Syndrome

The symptoms of CHRND Gene Myasthenic Syndrome can vary from person to person. Some of the common symptoms include:

• Weakness in the muscles that control movement
• Difficulty in breathing
• Difficulty in swallowing
• Fatigue
• Droopy eyelids
• Double vision

Diagnosis of CHRND Gene Myasthenic Syndrome

The diagnosis of CHRND Gene Myasthenic Syndrome involves a combination of clinical examination, genetic testing, and imaging studies. A clinical examination can help identify the symptoms and signs of the disorder. Genetic testing can help identify the mutation in the CHRND gene. Imaging studies such as MRI or CT scans can help identify any abnormalities in the muscles or nerves.

NGS Genetic DNA Test for CHRND Gene Myasthenic Syndrome

Next-Generation Sequencing (NGS) Genetic DNA Test is a powerful tool used for the diagnosis of genetic disorders such as CHRND Gene Myasthenic Syndrome. This test uses advanced sequencing technology to analyze the DNA sequence of the patient and identify any mutations or abnormalities in the CHRND gene.

Cost of NGS Genetic DNA Test for CHRND Gene Myasthenic Syndrome

The cost of NGS Genetic DNA Test for CHRND Gene Myasthenic Syndrome in India is around INR 20,000. This cost may vary depending on the location, laboratory, and other factors.

Conclusion

CHRND Gene Myasthenic Syndrome is a rare genetic disorder that affects the neuromuscular junction and leads to muscle weakness, difficulty in breathing, swallowing, and other symptoms. The diagnosis of this disorder involves a combination of clinical examination, genetic testing, and imaging studies. NGS Genetic DNA Test is a powerful tool used for the diagnosis of this disorder. The cost of this test in India is around INR 20,000.

If you or your loved ones are experiencing any symptoms of CHRND Gene Myasthenic Syndrome, it is important to consult a healthcare provider for proper diagnosis and treatment.

DNA Labs India is a leading provider of genetic testing services in India. We offer a wide range of genetic tests including NGS Genetic DNA Test for CHRND Gene Myasthenic Syndrome. Our team of experienced genetic counselors and scientists are dedicated to providing accurate and reliable test results. Contact us today to learn more about our services.