Short Description

NGS genetic DNA test detecets for variant and mutation detection in PUS1 gene for Mitochondrial myopathy and sideroblastic anemia type 1

PreTest Information

Clinical History of Patient who is going for PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic DNA Test gene PUS1

Detail Description

PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DNA Labs India is a leading genetic testing laboratory that offers a wide range of genetic tests to help diagnose and treat various genetic disorders. One such test is the PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 NGS Genetic DNA Test.

What is PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1?

PUS1 gene-related mitochondrial myopathy and sideroblastic anemia type 1 is a rare genetic disorder that affects the mitochondria, which are the powerhouses of the cells. This condition is caused by mutations in the PUS1 gene, which provides instructions for making an enzyme that is involved in the production of mitochondrial proteins. These proteins are essential for the proper functioning of the mitochondria, which generate energy for the cells.

People with PUS1 gene-related mitochondrial myopathy and sideroblastic anemia type 1 have muscle weakness and wasting, which can lead to difficulty walking, breathing, and swallowing. They may also have anemia, which is a shortage of red blood cells. This can cause fatigue, weakness, and shortness of breath.

Symptoms of PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1

The symptoms of PUS1 gene-related mitochondrial myopathy and sideroblastic anemia type 1 can vary from person to person, but they usually include:

• Muscle weakness and wasting
• Difficulty walking, breathing, and swallowing
• Anemia
• Fatigue, weakness, and shortness of breath

Diagnosis of PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1

The diagnosis of PUS1 gene-related mitochondrial myopathy and sideroblastic anemia type 1 is typically made through genetic testing. This involves analyzing a sample of the patient's DNA to look for mutations in the PUS1 gene. Other tests, such as muscle biopsies and blood tests, may also be done to help confirm the diagnosis.

NGS Genetic DNA Test Cost INR:20000

The cost of the PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 NGS Genetic DNA Test at DNA Labs India is INR 20000. This test is performed using next-generation sequencing (NGS) technology, which allows for rapid and accurate analysis of the patient's DNA. The test can be done using a blood or saliva sample, and the results are usually available within 2-3 weeks.

Conclusion

If you or someone you know is experiencing symptoms of PUS1 gene-related mitochondrial myopathy and sideroblastic anemia type 1, it is important to seek medical attention and consider genetic testing. The PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 NGS Genetic DNA Test offered by DNA Labs India is a reliable and affordable option for diagnosing this rare genetic disorder.

For more information or to schedule a test, please visit the DNA Labs India website.