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

Detail Description

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

DNA Labs India is pleased to offer the PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 NGS Genetic DNA Test at an affordable cost of INR 20,000. This test is designed to help diagnose and treat individuals who are suspected to have PUS1 gene mutations.

What is PUS1 Gene?

The PUS1 gene provides instructions for making an enzyme called pseudouridine synthase 1. This enzyme is involved in the process of creating a molecule called pseudouridine, which is a component of ribonucleic acid (RNA). RNA is a molecule that carries genetic information from DNA to the protein-making machinery of cells. Pseudouridine is important for the stability and function of RNA.

What is Mitochondrial Myopathy and Sideroblastic Anemia Type 1?

Mitochondrial myopathy and sideroblastic anemia type 1 is a rare genetic disorder that affects multiple systems in the body. It is caused by mutations in the PUS1 gene, which disrupt the normal function of the pseudouridine synthase 1 enzyme. This can lead to a variety of symptoms, including muscle weakness, exercise intolerance, anemia, and hearing loss.

What are the Symptoms of Mitochondrial Myopathy and Sideroblastic Anemia Type 1?

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
• Exercise intolerance
• Anemia
• Hearing loss
• Developmental delays in infants and young children
• Seizures

Diagnosis of Mitochondrial Myopathy and Sideroblastic Anemia Type 1

Diagnosis of mitochondrial myopathy and sideroblastic anemia type 1 is based on a combination of clinical symptoms, laboratory tests, and genetic testing. Laboratory tests may include blood tests to measure levels of iron and other minerals in the blood, as well as tests to evaluate muscle function and nerve conduction. Genetic testing is the most reliable way to confirm a diagnosis of this condition, and the PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 NGS Genetic DNA Test offered by DNA Labs India is an accurate and cost-effective way to do this.

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

The PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 NGS Genetic DNA Test is available at DNA Labs India for a cost of INR 20,000. This includes the cost of sample collection, laboratory testing, and a detailed report of the results.

Conclusion

At DNA Labs India, we are committed to providing our clients with accurate and affordable genetic testing services. The PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 NGS Genetic DNA Test is an important tool for diagnosing and treating individuals with this rare genetic disorder. If you or someone you know is experiencing symptoms of mitochondrial myopathy and sideroblastic anemia type 1, we encourage you to consider this test as a way to get answers and start on the path to effective treatment.

Contact DNA Labs India today to learn more about this and other genetic testing services we offer.

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 PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic DNA Test