PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 NGS Genetic DNA Test

DNA Labs India offers a comprehensive NGS genetic DNA test that can detect mutations in the PUS1 gene, which is associated with mitochondrial myopathy and sideroblastic anemia type 1. Mitochondrial myopathy is a rare genetic disorder that affects the muscles and can cause weakness, fatigue, and difficulty with movement. Sideroblastic anemia is a condition in which the body has trouble producing enough healthy red blood cells.

The PUS1 gene provides instructions for making an enzyme called pseudouridine synthase 1, which is involved in the process of making proteins. Mutations in the PUS1 gene can disrupt the normal function of this enzyme, leading to the symptoms of mitochondrial myopathy and sideroblastic anemia.

The NGS genetic DNA test offered by DNA Labs India can detect mutations in the PUS1 gene with high accuracy and specificity. The test is performed using a small blood sample and the results are typically available within a few weeks.

Test Cost

The cost of the PUS1 gene mitochondrial myopathy and sideroblastic anemia type 1 NGS genetic DNA test at DNA Labs India is INR 20,000.

Symptoms

The symptoms of mitochondrial myopathy and sideroblastic anemia type 1 can vary widely from person to person. Some common symptoms include:

• Muscle weakness and fatigue
• Difficulty with movement
• Poor coordination
• Anemia
• Fatigue
• Pale skin
• Shortness of breath
• Heart palpitations
• Enlarged liver or spleen

If you are experiencing any of these symptoms, it is important to talk to your doctor to determine the underlying cause.

Diagnosis

Diagnosing mitochondrial myopathy and sideroblastic anemia type 1 can be challenging, as the symptoms are similar to those of many other conditions. However, a genetic DNA test like the one offered by DNA Labs India can help to confirm a diagnosis.

If you are interested in getting tested for mutations in the PUS1 gene, you can contact DNA Labs India to schedule an appointment. The process is simple and painless, and the results can provide valuable information about your health.