SLC25A3 Gene Mitochondrial Phosphate Carrier Deficiency Genetic Test
Test Name: SLC25A3 Gene Mitochondrial phosphate carrier deficiency 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: Metabolic Disorders
Doctor: General Physician
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for SLC25A3 Gene Mitochondrial phosphate carrier deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Mitochondrial phosphate carrier deficiency.
Test Details
The SLC25A3 gene is responsible for encoding a protein called the mitochondrial phosphate carrier (MPC). This protein is found in the inner membrane of mitochondria and is involved in the transport of phosphate ions into the mitochondria, which is necessary for the production of ATP (adenosine triphosphate) – the main source of energy for cells.
Deficiencies in the SLC25A3 gene can lead to mitochondrial phosphate carrier deficiency, which is a rare genetic disorder. This condition impairs the transport of phosphate ions into the mitochondria, resulting in a decreased production of ATP. As a result, affected individuals may experience a wide range of symptoms, including muscle weakness, exercise intolerance, developmental delay, intellectual disability, and cardiac abnormalities.
NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations or variations in the SLC25A3 gene that may be responsible for mitochondrial phosphate carrier deficiency. This type of genetic testing involves sequencing the DNA of an individual to identify any genetic changes that may be associated with the condition. NGS is a powerful tool that allows for the analysis of multiple genes simultaneously, providing a comprehensive assessment of an individual’s genetic makeup.
By identifying mutations or variations in the SLC25A3 gene, NGS genetic testing can help in confirming a diagnosis of mitochondrial phosphate carrier deficiency. This information can be crucial for appropriate management and treatment of affected individuals. Additionally, it can also provide valuable information for genetic counseling and family planning purposes.
| Test Name | SLC25A3 Gene Mitochondrial phosphate carrier 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 | Metabolic Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for SLC25A3 Gene Mitochondrial phosphate carrier deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Mitochondrial phosphate carrier deficiency |
| Test Details | The SLC25A3 gene is responsible for encoding a protein called the mitochondrial phosphate carrier (MPC). This protein is found in the inner membrane of mitochondria and is involved in the transport of phosphate ions into the mitochondria, which is necessary for the production of ATP (adenosine triphosphate) – the main source of energy for cells. Deficiencies in the SLC25A3 gene can lead to mitochondrial phosphate carrier deficiency, which is a rare genetic disorder. This condition impairs the transport of phosphate ions into the mitochondria, resulting in a decreased production of ATP. As a result, affected individuals may experience a wide range of symptoms, including muscle weakness, exercise intolerance, developmental delay, intellectual disability, and cardiac abnormalities. NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations or variations in the SLC25A3 gene that may be responsible for mitochondrial phosphate carrier deficiency. This type of genetic testing involves sequencing the DNA of an individual to identify any genetic changes that may be associated with the condition. NGS is a powerful tool that allows for the analysis of multiple genes simultaneously, providing a comprehensive assessment of an individual’s genetic makeup. By identifying mutations or variations in the SLC25A3 gene, NGS genetic testing can help in confirming a diagnosis of mitochondrial phosphate carrier deficiency. This information can be crucial for appropriate management and treatment of affected individuals. Additionally, it can also provide valuable information for genetic counseling and family planning purposes. |
