COX15 Gene Leigh Syndrome Genetic Test
Test Name: COX15 Gene Leigh Syndrome 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 COX15 Gene Leigh Syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COX15 Gene Leigh Syndrome.
Test Details
The COX15 gene is responsible for encoding an enzyme called cytochrome c oxidase assembly protein 15, which is involved in the assembly of cytochrome c oxidase, the terminal enzyme complex in the electron transport chain of mitochondria.
Mutations in the COX15 gene have been associated with a rare genetic disorder called Leigh syndrome. Leigh syndrome is a severe neurological disorder that typically begins in infancy or early childhood. It is characterized by progressive loss of mental and movement abilities, developmental regression, muscle weakness, respiratory problems, and other symptoms.
The condition is caused by a dysfunction in the energy-producing mitochondria, leading to a deficiency in energy production in the affected cells.
NGS Technology
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify genetic variations or mutations that may be responsible for a particular disorder. In the case of Leigh syndrome, NGS testing can be used to sequence the COX15 gene and identify any pathogenic mutations that may be causing the condition.
By identifying the specific genetic mutation in the COX15 gene, NGS testing can provide a definitive diagnosis of Leigh syndrome and help determine the prognosis and potential treatment options for affected individuals. It can also be used for carrier testing in family members and prenatal testing in couples at risk of having a child with Leigh syndrome.
Consultation and Considerations
It is important to consult with a healthcare professional or a genetic counselor to discuss the benefits, limitations, and implications of COX15 gene NGS testing before undergoing the test.
Test Name | COX15 Gene Leigh syndrome 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 COX15 Gene Leigh syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with COX15 Gene Leigh syndrome |
Test Details |
The COX15 gene is responsible for encoding an enzyme called cytochrome c oxidase assembly protein 15, which is involved in the assembly of cytochrome c oxidase, the terminal enzyme complex in the electron transport chain of mitochondria. Mutations in the COX15 gene have been associated with a rare genetic disorder called Leigh syndrome. Leigh syndrome is a severe neurological disorder that typically begins in infancy or early childhood. It is characterized by progressive loss of mental and movement abilities, developmental regression, muscle weakness, respiratory problems, and other symptoms. The condition is caused by a dysfunction in the energy-producing mitochondria, leading to a deficiency in energy production in the affected cells. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify genetic variations or mutations that may be responsible for a particular disorder. In the case of Leigh syndrome, NGS testing can be used to sequence the COX15 gene and identify any pathogenic mutations that may be causing the condition. By identifying the specific genetic mutation in the COX15 gene, NGS testing can provide a definitive diagnosis of Leigh syndrome and help determine the prognosis and potential treatment options for affected individuals. It can also be used for carrier testing in family members and prenatal testing in couples at risk of having a child with Leigh syndrome. It is important to consult with a healthcare professional or a genetic counselor to discuss the benefits, limitations, and implications of COX15 gene NGS testing before undergoing the test. |