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CLCN1 Gene Myotonia congenita NGS Genetic DNA Test Cost 20000 Rs
CLCN1 Gene Myotonia congenita NGS Genetic DNA Test Details
CLCN1 Gene Myotonia Congenita NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis
Myotonia Congenita is a rare genetic disorder that affects the muscles and causes stiffness and delayed relaxation after contraction. This condition is caused by mutations in the CLCN1 gene, which encodes a chloride channel protein that is essential for muscle relaxation. To diagnose Myotonia Congenita, a CLCN1 Gene NGS Genetic DNA Test is required, which costs INR 20,000.
Symptoms of Myotonia Congenita
The symptoms of Myotonia Congenita can vary from mild to severe and usually appear during childhood or adolescence. Common symptoms include:
- Muscle stiffness and cramping
- Difficulty in relaxing muscles after contraction
- Delayed muscle relaxation
- Weakness in the muscles
- Difficulty in walking and running
- Difficulty in gripping objects
- Speech difficulties
The severity of symptoms can vary depending on the specific mutation in the CLCN1 gene. Some people may have mild symptoms that do not significantly affect their daily life, while others may experience severe symptoms that affect their ability to perform routine tasks.
Diagnosis of Myotonia Congenita
To diagnose Myotonia Congenita, a CLCN1 Gene NGS Genetic DNA Test is required, which can detect mutations in the CLCN1 gene. This test is a non-invasive procedure that involves taking a blood sample from the patient.
The CLCN1 Gene NGS Genetic DNA Test is a highly accurate and reliable test that can confirm the diagnosis of Myotonia Congenita. The test can also identify the specific mutation in the CLCN1 gene, which can help in determining the severity of symptoms and designing a personalized treatment plan.
Cost of CLCN1 Gene NGS Genetic DNA Test
The cost of the CLCN1 Gene NGS Genetic DNA Test is INR 20,000 in India. This cost includes the laboratory fees, genetic counseling, and interpretation of the results by a certified geneticist. The test is usually covered by insurance, and patients can check with their insurance provider for coverage details.
Conclusion
Myotonia Congenita is a rare genetic disorder that affects the muscles and causes stiffness and delayed relaxation after contraction. To diagnose this condition, a CLCN1 Gene NGS Genetic DNA Test is required, which costs INR 20,000. The test is a highly accurate and reliable way to confirm the diagnosis of Myotonia Congenita and identify the specific mutation in the CLCN1 gene. With early diagnosis and personalized treatment, patients with Myotonia Congenita can manage their symptoms and improve their quality of life.
Myotonia congenita is a rare genetic disorder that affects muscle relaxation after contraction, leading to muscle stiffness and difficulty relaxing muscles. Mutations in the CLCN1 gene are known to cause myotonia congenita. The CLCN1 gene provides instructions for producing a protein that plays a crucial role in the function of chloride channels in muscle cells.
