COX6B1 Gene Mitochondrial Complex IV Deficiency Genetic Test
The COX6B1 gene is involved in the production of a protein called cytochrome c oxidase subunit 6B1, which is a component of mitochondrial complex IV. Mitochondrial complex IV, also known as cytochrome c oxidase, is responsible for the final step in the electron transport chain, where it transfers electrons to oxygen and produces water.
Mitochondrial complex IV deficiency is a rare genetic disorder characterized by a reduced or absent activity of cytochrome c oxidase. This deficiency can lead to a variety of symptoms, including muscle weakness, exercise intolerance, developmental delays, and organ dysfunction.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify potential genetic mutations or variants. In the context of COX6B1 gene mitochondrial complex IV deficiency, NGS genetic testing can be used to identify mutations or variants in the COX6B1 gene that may be causing the deficiency.
By identifying these mutations or variants, NGS genetic testing can help in confirming a diagnosis of mitochondrial complex IV deficiency and provide valuable information for genetic counseling, disease management, and potential treatment options.
Test Details
- Test Name: COX6B1 Gene Mitochondrial Complex IV Deficiency Genetic Test
- Components: NGS Technology
- Price: 4400.0 AED
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Test Type: Neurological Disorders
- Doctor: Neurologist
- Test Department: Genetics
- Pre Test Information: Clinical History of Patient who is going for COX6B1 Gene Mitochondrial Complex IV Deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COX6B1 Gene Mitochondrial Complex IV Deficiency
Test Cost
The cost of the COX6B1 Gene Mitochondrial Complex IV Deficiency Genetic Test is 4400.0 AED.
Symptoms and Diagnosis
Mitochondrial complex IV deficiency can cause various symptoms, including muscle weakness, exercise intolerance, developmental delays, and organ dysfunction. To diagnose this condition, the COX6B1 Gene Mitochondrial Complex IV Deficiency Genetic Test using NGS technology can be conducted.
Conclusion
The COX6B1 Gene Mitochondrial Complex IV Deficiency Genetic Test is an important tool for diagnosing mitochondrial complex IV deficiency. By identifying mutations or variants in the COX6B1 gene, this test can confirm a diagnosis, provide valuable information for genetic counseling, disease management, and potential treatment options.
| Test Name | COX6B1 Gene Mitochondrial complex IV deficiency Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Neurological Disorders |
| Doctor | Neurologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for COX6B1 Gene Mitochondrial complex IV deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with COX6B1 Gene Mitochondrial complex IV deficiency |
| Test Details |
The COX6B1 gene is involved in the production of a protein called cytochrome c oxidase subunit 6B1, which is a component of mitochondrial complex IV. Mitochondrial complex IV, also known as cytochrome c oxidase, is responsible for the final step in the electron transport chain, where it transfers electrons to oxygen and produces water. Mitochondrial complex IV deficiency is a rare genetic disorder characterized by a reduced or absent activity of cytochrome c oxidase. This deficiency can lead to a variety of symptoms, including muscle weakness, exercise intolerance, developmental delays, and organ dysfunction. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify potential genetic mutations or variants. In the context of COX6B1 gene mitochondrial complex IV deficiency, NGS genetic testing can be used to identify mutations or variants in the COX6B1 gene that may be causing the deficiency. By identifying these mutations or variants, NGS genetic testing can help in confirming a diagnosis of mitochondrial complex IV deficiency and provide valuable information for genetic counseling, disease management, and potential treatment options. |
