PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 Genetic Test
Test Name: PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test Type: Cardiovascular Pneumology Disorders
Doctor: Cardiologist
Test Department: Genetics
Pre Test 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
Test Details
The PUS1 gene is responsible for providing instructions for producing an enzyme called pseudouridine synthase 1. This enzyme plays a crucial role in modifying RNA molecules by converting specific uridine bases to pseudouridine. Pseudouridine is important for the stability and function of RNA molecules.
Mutations in the PUS1 gene can lead to a condition called mitochondrial myopathy and sideroblastic anemia type 1. This is an autosomal recessive disorder characterized by muscle weakness, exercise intolerance, and anemia. It is caused by a deficiency in pseudouridine synthase 1 activity, which affects the production of functional RNA molecules in mitochondria.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously. It allows for the detection of various genetic mutations, including those in the PUS1 gene. This test involves sequencing the DNA of an individual to identify any potential disease-causing mutations in the PUS1 gene.
The results of the NGS genetic test can help in confirming a diagnosis of mitochondrial myopathy and sideroblastic anemia type 1 and guide appropriate management and treatment strategies.
| Test Name | PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Cardiovascular Pneumology Disorders |
| Doctor | Cardiologist |
| Test Department: | Genetics |
| Pre Test 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 |
| Test Details |
The PUS1 gene is responsible for providing instructions for producing an enzyme called pseudouridine synthase 1. This enzyme plays a crucial role in modifying RNA molecules by converting specific uridine bases to pseudouridine. Pseudouridine is important for the stability and function of RNA molecules. Mutations in the PUS1 gene can lead to a condition called mitochondrial myopathy and sideroblastic anemia type 1. This is an autosomal recessive disorder characterized by muscle weakness, exercise intolerance, and anemia. It is caused by a deficiency in pseudouridine synthase 1 activity, which affects the production of functional RNA molecules in mitochondria. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously. It allows for the detection of various genetic mutations, including those in the PUS1 gene. This test involves sequencing the DNA of an individual to identify any potential disease-causing mutations in the PUS1 gene. The results of the NGS genetic test can help in confirming a diagnosis of mitochondrial myopathy and sideroblastic anemia type 1 and guide appropriate management and treatment strategies. |
