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RYR1 Gene Central core disease NGS Genetic DNA Test Cost 20000 Rs
RYR1 Gene Central core disease NGS Genetic DNA Test Details
RYR1 Gene Central Core Disease NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis
Central core disease (CCD) is a rare genetic disorder that affects the muscles. CCD is caused by a mutation in the RYR1 gene. The RYR1 gene provides instructions for making a protein called the ryanodine receptor, which plays a critical role in muscle function. CCD is an autosomal dominant disorder, which means that a person only needs to inherit one mutated copy of the RYR1 gene to develop the condition.
Symptoms of CCD
The symptoms of CCD can vary widely from person to person. Some people may have mild symptoms, while others may have more severe symptoms. The most common symptoms of CCD include:
- Muscle weakness
- Delayed motor development
- Difficulty with running and jumping
- Low muscle tone
- Joint contractures
- Scoliosis
- Respiratory problems
- Heart problems
Diagnosis of CCD
CCD is diagnosed based on a combination of clinical symptoms, family history, and genetic testing. A muscle biopsy may also be performed to confirm the diagnosis. Genetic testing is done to identify mutations in the RYR1 gene.
NGS Genetic DNA Test for CCD
Next-generation sequencing (NGS) is a type of genetic testing that can be used to identify mutations in the RYR1 gene. NGS testing is a powerful tool that can sequence large portions of the genome in a single run. The NGS genetic DNA test for CCD is a non-invasive test that requires only a blood sample or a saliva sample. The test is highly accurate and can identify mutations in the RYR1 gene with a high degree of accuracy.
Cost of NGS Genetic DNA Test for CCD
The cost of the NGS genetic DNA test for CCD in India is around INR 20,000. The cost of the test may vary depending on the lab and the specific test that is being performed. Some labs may offer discounts for patients who are referred by a doctor or who have insurance coverage.
Conclusion
CCD is a rare genetic disorder that affects the muscles. The disorder is caused by a mutation in the RYR1 gene. Symptoms of CCD can vary widely from person to person. Diagnosis is based on a combination of clinical symptoms, family history, and genetic testing. NGS genetic DNA testing is a powerful tool that can be used to identify mutations in the RYR1 gene. The cost of the NGS genetic DNA test for CCD in India is around INR 20,000.
If you or a loved one is experiencing symptoms of CCD, it is important to speak with a doctor or genetic counselor. They can help you understand the diagnosis and treatment options that are available. DNA Labs India is a leading provider of genetic testing services in India and offers a wide range of tests, including the NGS genetic DNA test for CCD. Contact us today to learn more about our services.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for RYR1 Gene Central core disease NGS Genetic DNA Test
