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NDUFA12 Gene Leigh syndrome due to mitochondrial complex I deficiency Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The “NDUFA12 Gene Leigh Syndrome due to Mitochondrial Complex I Deficiency Genetic Test” is a specialized diagnostic tool designed to identify mutations in the NDUFA12 gene, which are associated with Leigh syndrome. This condition is a severe neurological disorder that typically emerges in the first year of life, characterized by progressive loss of mental and movement abilities. Leigh syndrome is often linked to mitochondrial complex I deficiency, a critical issue in cellular energy production.

The test is carried out by DNA Labs UAE, a leading facility in genetic diagnostics, ensuring high accuracy and reliability. By analyzing the patient’s DNA, the test can pinpoint specific genetic alterations in the NDUFA12 gene, confirming a diagnosis of Leigh syndrome due to mitochondrial complex I deficiency. This information is crucial for understanding the disease’s progression, potential interventions, and family planning considerations.

The cost of the test is set at 4400 AED, reflecting the sophisticated technology and expertise required to accurately identify the genetic markers associated with this condition. By opting for this test, patients and their families can gain valuable insights into the genetic underpinnings of Leigh syndrome, facilitating informed decisions regarding management and treatment strategies.

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NDUFA12 Gene Leigh Syndrome Due to Mitochondrial Complex I Deficiency Genetic Test

Welcome to DNA Labs UAE, your trusted genetic lab for all your testing needs. Today, we will be discussing the NDUFA12 Gene Leigh Syndrome due to Mitochondrial Complex I Deficiency Genetic Test. This test is essential for individuals who are suspected of having Leigh syndrome, a progressive neurological disorder that typically starts in infancy or early childhood.

Test Details

The NDUFA12 gene is associated with Leigh syndrome, which is characterized by various symptoms such as developmental delay, muscle weakness, movement disorders, respiratory problems, and lactic acidosis. Mitochondrial complex I deficiency refers to a dysfunction in the NADH dehydrogenase (complex I) enzyme complex, responsible for the initial step in the mitochondrial electron transport chain. This deficiency can disrupt ATP production, the cell’s energy currency, leading to the symptoms observed in Leigh syndrome.

Our NGS (Next-Generation Sequencing) technology allows us to analyze multiple genes simultaneously, including the NDUFA12 gene and other genes associated with mitochondrial function and complex I deficiency. This comprehensive approach aids in confirming a diagnosis, providing information about disease prognosis, and guiding treatment options.

Test Components and Price

The NDUFA12 Gene Leigh Syndrome due to Mitochondrial Complex I Deficiency Genetic Test is priced at 4400.0 AED. We accept blood samples, extracted DNA, or one drop of blood on an FTA card for this test.

Report Delivery and Test Duration

Once the sample is received, the report will be delivered within 3 to 4 weeks. We understand the importance of timely results, and our team works diligently to provide accurate and efficient testing services.

Doctor and Test Department

For this specific test, we recommend consulting a neurologist who specializes in neurological disorders. Our test is conducted in the Genetics department, where our expert team ensures the highest quality standards are met.

Pre-Test Information and Genetic Counseling

Prior to undergoing the NDUFA12 Gene Leigh Syndrome due to Mitochondrial Complex I Deficiency NGS Genetic Test, it is essential to provide the clinical history of the patient. Additionally, we highly recommend a genetic counseling session to draw a pedigree chart of family members affected by NDUFA12 Gene Leigh Syndrome due to Mitochondrial Complex I Deficiency. This session will help us understand the genetic inheritance pattern and provide accurate results.

It is crucial to note that genetic testing should be performed and interpreted by a qualified healthcare professional, such as a geneticist or genetic counselor. They can provide appropriate counseling and support throughout the testing process.

At DNA Labs UAE, we prioritize your health and well-being. Our NDUFA12 Gene Leigh Syndrome due to Mitochondrial Complex I Deficiency Genetic Test is designed to provide accurate and reliable results. Contact us today to schedule an appointment or to learn more about our services.

Test Name NDUFA12 Gene Leigh syndrome due to mitochondrial complex I 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 NDUFA12 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NDUFA12 Gene Leigh syndrome due to mitochondrial complex I deficiency
Test Details

The NDUFA12 gene is associated with Leigh syndrome, which is a progressive neurological disorder that typically begins in infancy or early childhood. Leigh syndrome is characterized by a variety of symptoms including developmental delay, muscle weakness, movement disorders, respiratory problems, and lactic acidosis.

Mitochondrial complex I deficiency refers to a dysfunction in the NADH dehydrogenase (complex I) enzyme complex, which is responsible for the first step in the mitochondrial electron transport chain. This deficiency can lead to a disruption in the production of ATP, the energy currency of the cell, resulting in the symptoms seen in Leigh syndrome.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that can analyze multiple genes simultaneously. In the context of Leigh syndrome due to mitochondrial complex I deficiency, NGS genetic testing can be used to identify mutations or variants in the NDUFA12 gene, as well as other genes associated with mitochondrial function and complex I deficiency. This can help in confirming a diagnosis, providing information about disease prognosis, and guiding treatment options.

It is important to note that genetic testing should be performed and interpreted by a qualified healthcare professional, such as a geneticist or genetic counselor, who can provide appropriate counseling and support.