ACAD9 Gene Leigh Syndrome and Mitochondrial Encephalopathy Genetic Test
Genetic testing plays a crucial role in the diagnosis and treatment of various genetic disorders. One such test is the ACAD9 Gene Leigh Syndrome and Mitochondrial Encephalopathy Genetic Test offered by DNA Labs UAE.
Test Name: ACAD9 Gene Leigh Syndrome and Mitochondrial Encephalopathy Genetic Test
Components: NGS Technology
Price: 4400.0 AED
Sample Condition: Blood
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 ACAD9 Gene Leigh Syndrome and Mitochondrial Encephalopathy NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ACAD9 Gene Leigh Syndrome and Mitochondrial Encephalopathy.
Test Details:
The ACAD9 gene is responsible for producing an enzyme called acyl-CoA dehydrogenase 9, which is involved in the breakdown of fatty acids for energy production in the mitochondria. Mutations in the ACAD9 gene can lead to two different conditions: Leigh syndrome and mitochondrial encephalopathy.
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, along with respiratory problems and other symptoms. Mutations in the ACAD9 gene can cause a deficiency in the acyl-CoA dehydrogenase 9 enzyme, leading to impaired energy production in the mitochondria and the subsequent neurological symptoms seen in Leigh syndrome.
Mitochondrial Encephalopathy:
Mitochondrial encephalopathy is a broader term that encompasses a range of disorders characterized by neurological symptoms due to dysfunction in the mitochondria. Mutations in the ACAD9 gene can also cause mitochondrial encephalopathy, leading to symptoms such as muscle weakness, seizures, developmental delays, and other neurological problems.
NGS Technology:
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify mutations or variations that may be responsible for a specific condition. In the context of Leigh syndrome and mitochondrial encephalopathy, NGS genetic testing can be used to analyze the ACAD9 gene and other genes associated with mitochondrial function to identify potential mutations that may be causing the condition.
Benefits of ACAD9 Gene Leigh Syndrome and Mitochondrial Encephalopathy Genetic Test:
- Provides a definitive diagnosis for Leigh syndrome or mitochondrial encephalopathy
- Guides treatment decisions
- Provides valuable information for genetic counseling and family planning
Genetic testing, such as the ACAD9 Gene Leigh Syndrome and Mitochondrial Encephalopathy Genetic Test, is crucial in understanding and managing genetic disorders. By identifying specific mutations in the ACAD9 gene or other genes related to mitochondrial function, this test can provide valuable insights for patients and their families.
| Test Name | ACAD9 Gene Leigh syndrome and mitochondrial encephalopathy Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood |
| 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 ACAD9 Gene Leigh syndrome and mitochondrial encephalopathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ACAD9 Gene Leigh syndrome and mitochondrial encephalopathy |
| Test Details |
The ACAD9 gene is responsible for producing an enzyme called acyl-CoA dehydrogenase 9, which is involved in the breakdown of fatty acids for energy production in the mitochondria. Mutations in the ACAD9 gene can lead to two different conditions: Leigh syndrome and mitochondrial encephalopathy. 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, along with respiratory problems and other symptoms. Mutations in the ACAD9 gene can cause a deficiency in the acyl-CoA dehydrogenase 9 enzyme, leading to impaired energy production in the mitochondria and the subsequent neurological symptoms seen in Leigh syndrome. Mitochondrial encephalopathy is a broader term that encompasses a range of disorders characterized by neurological symptoms due to dysfunction in the mitochondria. Mutations in the ACAD9 gene can also cause mitochondrial encephalopathy, leading to symptoms such as muscle weakness, seizures, developmental delays, and other neurological problems. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify mutations or variations that may be responsible for a specific condition. In the context of Leigh syndrome and mitochondrial encephalopathy, NGS genetic testing can be used to analyze the ACAD9 gene and other genes associated with mitochondrial function to identify potential mutations that may be causing the condition. By identifying specific mutations in the ACAD9 gene or other genes related to mitochondrial function, NGS genetic testing can provide a definitive diagnosis for Leigh syndrome or mitochondrial encephalopathy. This can help guide treatment decisions and provide valuable information for genetic counseling and family planning. |
