At DNA Labs UAE, we are committed to providing comprehensive genetic testing services to help individuals understand their genetic makeup and identify potential health risks. One of the critical tests we offer is the NDUFS2 Gene Mitochondrial Complex I Deficiency Genetic Test. This test is crucial for diagnosing mitochondrial diseases, specifically those related to the NDUFS2 gene. Mitochondrial complex I deficiency is a severe condition that can affect multiple systems in the body, leading to a wide range of symptoms.
Understanding NDUFS2 Gene Mitochondrial Complex I Deficiency
Mitochondrial complex I deficiency due to mutations in the NDUFS2 gene is a rare genetic disorder that impairs the normal function of mitochondria. Mitochondria are known as the powerhouses of the cell, generating most of the cell’s supply of adenosine triphosphate (ATP), used as a source of chemical energy. When there is a deficiency in complex I, the first enzyme complex in the mitochondrial respiratory chain, it leads to inadequate energy production, affecting various body systems.
Symptoms of NDUFS2 Gene Mitochondrial Complex I Deficiency
The symptoms of NDUFS2 gene mitochondrial complex I deficiency can vary widely among affected individuals, ranging from mild to severe. Some of the common symptoms include:
- Neurological issues, such as developmental delay, seizures, and muscle weakness
- Cardiomyopathy, a disease of the heart muscle that makes it harder for the heart to pump blood to the rest of the body
- Lactic acidosis, a buildup of lactic acid in the body, which can lead to symptoms such as nausea, vomiting, and rapid breathing
- Failure to thrive in infants, characterized by a lack of weight gain and physical growth
- Visual and hearing impairment
- Respiratory problems
It is crucial for individuals showing these symptoms to undergo genetic testing to confirm the diagnosis of NDUFS2 gene mitochondrial complex I deficiency.
NDUFS2 Gene Mitochondrial Complex I Deficiency Genetic Test at DNA Labs UAE
At DNA Labs UAE, we offer the NDUFS2 Gene Mitochondrial Complex I Deficiency Genetic Test to help diagnose this condition. The test is performed using a blood sample, where DNA is extracted and analyzed for mutations in the NDUFS2 gene. A positive test result can confirm the diagnosis, allowing for early intervention and management of the condition.
Test Cost
The cost of the NDUFS2 Gene Mitochondrial Complex I Deficiency Genetic Test at DNA Labs UAE is 4400 AED. This cost includes the genetic testing process, analysis, and a comprehensive report of the findings.
Conclusion
Understanding the genetic basis of mitochondrial diseases like NDUFS2 gene mitochondrial complex I deficiency is crucial for effective management and treatment. DNA Labs UAE is committed to providing accurate and reliable genetic testing services to help individuals and families affected by this condition. For more information or to schedule a test, please visit our website.
