UQCRB Gene Mitochondrial Complex III Deficiency Genetic Test
Cost: 4400.0 AED
Symptoms, Diagnosis, and Test Details
The UQCRB gene is responsible for encoding a protein called ubiquinol-cytochrome c reductase binding protein. This protein is a subunit of mitochondrial complex III, which is a crucial component of the electron transport chain responsible for ATP generation within the mitochondria.
Mitochondrial complex III deficiency refers to a group of genetic disorders resulting from mutations in genes involved in the formation or function of complex III. These mutations can cause a decrease in complex III activity, leading to impaired ATP production and various symptoms and clinical features.
For the diagnosis of UQCRB Gene Mitochondrial Complex III Deficiency, NGS (Next-Generation Sequencing) genetic testing is used. NGS allows for the simultaneous analysis of multiple genes, enabling the identification of genetic mutations associated with specific disorders.
NGS genetic testing can identify mutations in the UQCRB gene or other genes involved in complex III function. By pinpointing the specific genetic mutations causing mitochondrial complex III deficiency, NGS testing aids in diagnosis, predicting disease progression, and guiding treatment decisions.
Additionally, NGS testing is valuable for genetic counseling and family planning purposes.
Test Components and Sample Condition
- Test Name: UQCRB Gene Mitochondrial Complex III Deficiency Genetic Test
- Price: 4400.0 AED
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery and Method
- Report Delivery: 3 to 4 Weeks
- Method: NGS Technology
Test Type and Doctor
- Test Type: Neurological Disorders
- Doctor: Neurologist
Test Department and Pre Test Information
- Test Department: Genetics
- Pre Test Information: Clinical History of the Patient and Genetic Counseling Session to Draw a Pedigree Chart of Affected Family Members
Test Name | UQCRB Gene Mitochondrial complex III 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 UQCRB Gene Mitochondrial complex III deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with UQCRB Gene Mitochondrial complex III deficiency |
Test Details |
The UQCRB gene is a gene that encodes a protein called ubiquinol-cytochrome c reductase binding protein, which is a subunit of mitochondrial complex III. Mitochondrial complex III is a key component of the electron transport chain, which is responsible for generating energy in the form of ATP within the mitochondria. Mitochondrial complex III deficiency refers to a group of genetic disorders that result from mutations in genes involved in the formation or function of complex III. These mutations can lead to a decrease in the activity of complex III, which impairs the production of ATP and can result in a variety of symptoms and clinical features. NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously, allowing for the identification of genetic mutations associated with specific disorders. In the case of mitochondrial complex III deficiency, NGS genetic testing can be used to identify mutations in the UQCRB gene or other genes involved in complex III function. By identifying the specific genetic mutations causing mitochondrial complex III deficiency, NGS genetic testing can help in diagnosing the condition, predicting its progression, and informing treatment decisions. It can also be useful for genetic counseling and family planning purposes. |