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ACAD9 Gene Leigh syndrome and mitochondrial encephalopathy Genetic Test

4,400 د.إ

-21%

The ACAD9 Gene Leigh Syndrome and Mitochondrial Encephalopathy Genetic Test is a specialized diagnostic tool offered by DNA Labs UAE, aimed at identifying mutations in the ACAD9 gene, which are associated with Leigh syndrome and mitochondrial encephalopathy. Leigh syndrome, also known as subacute necrotizing encephalomyelopathy, is a severe neurological disorder that typically arises in the first year of life and is characterized by progressive loss of mental and movement abilities. Mitochondrial encephalopathy encompasses a range of disorders caused by dysfunction of the mitochondria, leading to neurological and muscular impairments.

The ACAD9 gene plays a crucial role in the function of mitochondria, the energy-producing structures within cells, making its mutations a critical factor in the development of these conditions. The test conducted at DNA Labs UAE involves analyzing the patient’s DNA to detect any abnormalities in the ACAD9 gene that could lead to the development of Leigh syndrome or mitochondrial encephalopathy.

The cost of the ACAD9 Gene Leigh Syndrome and Mitochondrial Encephalopathy Genetic Test is 4400 AED. This investment covers the comprehensive analysis required to accurately identify the genetic markers associated with these conditions, providing essential information for diagnosis, treatment planning, and genetic counseling. Conducted in the state-of-the-art facilities of DNA Labs UAE, this test represents a crucial step for patients and families seeking answers to complex genetic disorders affecting the nervous system and muscular function.

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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.