BCS1L 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
- 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 BCS1L Gene Mitochondrial Complex III Deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with BCS1L Gene Mitochondrial Complex III Deficiency.
Test Details:
The BCS1L gene is responsible for encoding a protein that is involved in the assembly and function of complex III in the mitochondria. Complex III, also known as the cytochrome bc1 complex, is a crucial component of the electron transport chain, which is responsible for generating energy in the form of ATP.
A mitochondrial complex III deficiency can lead to a variety of symptoms and health problems, including muscle weakness, exercise intolerance, developmental delays, and respiratory problems. It is an inherited condition, and mutations in the BCS1L gene are one of the known causes of this deficiency.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that can analyze multiple genes simultaneously and detect variations or mutations in the DNA sequence. In the context of BCS1L gene mitochondrial complex III deficiency, NGS genetic testing can be used to identify any genetic variations or mutations in the BCS1L gene that may be causing the deficiency.
This type of genetic testing can help in diagnosing the condition, determining the underlying cause, and providing information for personalized treatment and management strategies. It can also be used for carrier testing and prenatal diagnosis in families with a history of complex III deficiency caused by BCS1L gene mutations.
Test Name | BCS1L 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 BCS1L Gene Mitochondrial complex III deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with BCS1L Gene Mitochondrial complex III deficiency |
Test Details |
The BCS1L gene is responsible for encoding a protein that is involved in the assembly and function of complex III in the mitochondria. Complex III, also known as the cytochrome bc1 complex, is a crucial component of the electron transport chain, which is responsible for generating energy in the form of ATP. A mitochondrial complex III deficiency can lead to a variety of symptoms and health problems, including muscle weakness, exercise intolerance, developmental delays, and respiratory problems. It is an inherited condition, and mutations in the BCS1L gene are one of the known causes of this deficiency. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that can analyze multiple genes simultaneously and detect variations or mutations in the DNA sequence. In the context of BCS1L gene mitochondrial complex III deficiency, NGS genetic testing can be used to identify any genetic variations or mutations in the BCS1L gene that may be causing the deficiency. This type of genetic testing can help in diagnosing the condition, determining the underlying cause, and providing information for personalized treatment and management strategies. It can also be used for carrier testing and prenatal diagnosis in families with a history of complex III deficiency caused by BCS1L gene mutations. |