Short Description

NGS genetic DNA test detecets for variant and mutation detection in RYR1 gene for Minicore myopathy with external ophthalmoplegia

PreTest Information

Clinical History of Patient who is going for RYR1 Gene Minicore myopathy with external ophthalmoplegia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RYR1 Gene Minicore myopathy with external ophthalmoplegia

Detail Description

RYR1 Gene Minicore Myopathy with External Ophthalmoplegia NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

RYR1 Gene Minicore Myopathy with External Ophthalmoplegia is a rare genetic disorder that affects the muscles and eyes. The disorder is caused by a mutation in the RYR1 gene, which is responsible for producing a protein that helps muscles contract. The disorder is characterized by muscle weakness, low muscle tone, and difficulty swallowing. External ophthalmoplegia is a condition in which the muscles that control eye movement are weakened, leading to difficulty moving the eyes.

Symptoms of RYR1 Gene Minicore Myopathy with External Ophthalmoplegia

The symptoms of RYR1 Gene Minicore Myopathy with External Ophthalmoplegia can vary from person to person. Some common symptoms include:

• Muscle weakness
• Low muscle tone
• Difficulty swallowing
• Difficulty breathing
• External ophthalmoplegia
• Scoliosis

These symptoms can be mild or severe, and they may worsen over time. Some people with RYR1 Gene Minicore Myopathy with External Ophthalmoplegia may also have developmental delays, intellectual disability, or seizures.

Diagnosis of RYR1 Gene Minicore Myopathy with External Ophthalmoplegia

RYR1 Gene Minicore Myopathy with External Ophthalmoplegia is typically diagnosed through genetic testing. A sample of the patient's DNA is analyzed to look for mutations in the RYR1 gene. Other tests, such as muscle biopsies or electromyography, may also be used to confirm the diagnosis and assess the severity of the condition.

NGS Genetic DNA Test for RYR1 Gene Minicore Myopathy with External Ophthalmoplegia

The NGS Genetic DNA Test is a highly accurate and reliable test that can detect mutations in the RYR1 gene. The test uses next-generation sequencing technology to analyze the patient's DNA and identify any changes in the gene that may be causing the disorder. The test is non-invasive and requires only a small blood sample. The cost of the NGS Genetic DNA Test for RYR1 Gene Minicore Myopathy with External Ophthalmoplegia is INR:20000.

Conclusion

RYR1 Gene Minicore Myopathy with External Ophthalmoplegia is a rare genetic disorder that can cause muscle weakness, low muscle tone, and difficulty swallowing. The disorder is caused by a mutation in the RYR1 gene, and it is typically diagnosed through genetic testing. The NGS Genetic DNA Test is a highly accurate and reliable test that can detect mutations in the RYR1 gene and help diagnose the disorder. The cost of the test is INR:20000. If you or a loved one is experiencing symptoms of RYR1 Gene Minicore Myopathy with External Ophthalmoplegia, it is important to speak with a doctor and consider genetic testing to confirm the diagnosis.

For more information on genetic testing and DNA labs in India, contact DNA Labs India.

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 Minicore myopathy with external ophthalmoplegia NGS Genetic DNA Test