MTO1 Gene Combined Oxidative Phosphorylation Deficiency Type 10 Genetic Test
Are you or your loved ones experiencing muscle weakness, developmental delay, intellectual disability, seizures, or various organ dysfunctions? These symptoms could be indications of a rare genetic disorder called combined oxidative phosphorylation deficiency type 10 (COXPD10). To diagnose this condition, DNA Labs UAE offers the MTO1 Gene Combined Oxidative Phosphorylation Deficiency Type 10 Genetic Test.
Test Details
The MTO1 gene is responsible for producing an enzyme called mitochondrial translation optimization 1 (MTO1). This enzyme plays a crucial role in the process of oxidative phosphorylation, which generates energy in the form of adenosine triphosphate (ATP) within mitochondria. Mutations in the MTO1 gene can lead to COXPD10, a condition characterized by a deficiency in the activity of the enzyme complex involved in oxidative phosphorylation.
Our MTO1 Gene Combined Oxidative Phosphorylation Deficiency Type 10 Genetic Test utilizes Next-Generation Sequencing (NGS) technology to analyze multiple genes simultaneously. Specifically, it focuses on identifying mutations in the MTO1 gene. By sequencing the DNA of an individual, our test can detect any alterations or variations in the MTO1 gene sequence.
Test Components and Price
The MTO1 Gene Combined Oxidative Phosphorylation Deficiency Type 10 Genetic Test costs AED 4400.0. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Report Delivery and Method
After conducting the test, we deliver the report within 3 to 4 weeks. Our method, NGS technology, ensures accurate and efficient analysis of the genetic information.
Test Type and Doctor
The MTO1 Gene Combined Oxidative Phosphorylation Deficiency Type 10 Genetic Test falls under the category of metabolic disorders. Our team of experienced general physicians in the Genetics department will oversee the testing process and provide expert guidance.
Pre Test Information
Before undergoing the MTO1 Gene Combined Oxidative Phosphorylation Deficiency Type 10 Genetic Test, we recommend providing the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by COXPD10. This information aids in accurate diagnosis and appropriate management and treatment options for affected individuals.
If you suspect COXPD10 or have a family history of this condition, do not hesitate to contact DNA Labs UAE. Our MTO1 Gene Combined Oxidative Phosphorylation Deficiency Type 10 Genetic Test can provide the answers you need for better health and well-being.
| Test Name | MTO1 Gene Combined oxidative phosphorylation deficiency type 10 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 | Metabolic Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for MTO1 Gene Combined oxidative phosphorylation deficiency type 10 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 10 |
| Test Details |
The MTO1 gene is responsible for producing an enzyme called mitochondrial translation optimization 1 (MTO1). This enzyme plays a crucial role in the process of oxidative phosphorylation, which is responsible for generating energy in the form of adenosine triphosphate (ATP) within mitochondria. Mutations in the MTO1 gene can lead to a condition called combined oxidative phosphorylation deficiency type 10 (COXPD10). This is a rare genetic disorder characterized by a deficiency in the activity of the enzyme complex involved in oxidative phosphorylation. As a result, affected individuals may experience a wide range of symptoms, including muscle weakness, developmental delay, intellectual disability, seizures, and various organ dysfunctions. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously. In the context of COXPD10, an NGS genetic test can be used to identify mutations in the MTO1 gene. This test involves sequencing the DNA of an individual to detect any alterations or variations in the MTO1 gene sequence. By identifying these mutations, healthcare professionals can provide a diagnosis for COXPD10 and offer appropriate management and treatment options for affected individuals. |
