Short Description

NGS genetic DNA test detecets for variant and mutation detection in SELENON gene for Myopathy with fiber-type disproportion

PreTest Information

Clinical History of Patient who is going for SELENON Gene Myopathy with fiber-type disproportion NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SELENON Gene Myopathy with fiber-type disproportion

Detail Description

SELENON Gene Myopathy with Fiber-Type Disproportion: Symptoms, Diagnosis and NGS Genetic DNA Test Cost

DNA Labs India, a leading genetic testing laboratory in India, offers advanced genetic testing services to diagnose various genetic disorders. One such disorder is SELENON gene myopathy with fiber-type disproportion, which is a rare genetic muscle disorder that affects muscle strength and function. In this blog, we will discuss the symptoms, diagnosis, and NGS genetic DNA test cost for this disorder.

What is SELENON Gene Myopathy with Fiber-Type Disproportion?

SELENON gene myopathy with fiber-type disproportion is a rare genetic muscle disorder that affects muscle strength and function. This disorder is caused by mutations in the SELENON gene, which provides instructions for making the protein selenoprotein N. Selenoprotein N is important for the proper functioning of skeletal muscles, which are the muscles that control movement.

SELENON gene myopathy with fiber-type disproportion is characterized by muscle weakness, especially in the muscles closest to the center of the body (proximal muscles). The weakness is often more pronounced in the legs than in the arms. People with this disorder may also have an abnormality called fiber-type disproportion, in which the size and shape of muscle fibers are not uniform.

Symptoms of SELENON Gene Myopathy with Fiber-Type Disproportion

The symptoms of SELENON gene myopathy with fiber-type disproportion can vary greatly from person to person, even among members of the same family. Some people may have only mild weakness in the muscles closest to the center of the body, while others may have severe weakness that affects their ability to walk or perform other daily activities.

Other symptoms of SELENON gene myopathy with fiber-type disproportion may include:

• Muscle pain and stiffness
• Difficulty swallowing (dysphagia)
• Difficulty breathing (dyspnea)
• Scoliosis (curvature of the spine)
• Joint contractures (stiffness and loss of motion in the joints)
• Delayed motor milestones (such as crawling and walking)

Diagnosis of SELENON Gene Myopathy with Fiber-Type Disproportion

Diagnosis of SELENON gene myopathy with fiber-type disproportion can be difficult because it is a rare disorder and its symptoms can be similar to those of other muscle disorders. However, genetic testing can help confirm the diagnosis.

NGS genetic DNA testing is the most advanced and accurate method to diagnose SELENON gene myopathy with fiber-type disproportion. This test uses next-generation sequencing technology to analyze the entire coding region of the SELENON gene to identify any mutations that may be causing the disorder.

NGS Genetic DNA Test Cost for SELENON Gene Myopathy with Fiber-Type Disproportion

The cost of NGS genetic DNA testing for SELENON gene myopathy with fiber-type disproportion at DNA Labs India is INR 20,000. This cost includes sample collection, DNA extraction, NGS sequencing, bioinformatics analysis, and interpretation of results by our team of expert geneticists.

NGS genetic DNA testing is a non-invasive and painless procedure that involves collecting a small sample of blood or saliva from the patient. The sample is then sent to our laboratory for analysis, and results are usually available within 2-3 weeks.

Conclusion

SELENON gene myopathy with fiber-type disproportion is a rare genetic muscle disorder that affects muscle strength and function. The symptoms of this disorder can vary greatly from person to person, and diagnosis can be difficult without genetic testing. NGS genetic DNA testing is the most advanced and accurate method to diagnose SELENON gene myopathy with fiber-type disproportion, and the cost of this test at DNA Labs India is INR 20,000.

If you or someone you know is experiencing symptoms of SELENON gene myopathy with fiber-type disproportion, it is important to consult a geneticist or other healthcare professional for diagnosis and treatment options.

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 SELENON Gene Myopathy with fiber-type disproportion NGS Genetic DNA Test