At DNA Labs UAE, we specialize in providing comprehensive genetic testing services, including the PDHB Gene Pyruvate Dehydrogenase E1-Beta Deficiency Genetic Test. Pyruvate dehydrogenase E1-beta deficiency is a rare metabolic disorder that affects the way cells produce energy. This condition can lead to a range of health issues, from mild to severe. Understanding the symptoms of PDHB gene deficiency is crucial for early diagnosis and management of the condition.
Understanding PDHB Gene Pyruvate Dehydrogenase E1-Beta Deficiency
Pyruvate dehydrogenase E1-beta deficiency is caused by mutations in the PDHB gene. This gene provides instructions for making one of the subunits of the pyruvate dehydrogenase complex, an essential enzyme complex for energy production in cells. Mutations in the PDHB gene reduce the activity of the pyruvate dehydrogenase complex, leading to a buildup of a substance called pyruvate and a related compound, lactate, in the blood. This buildup can cause a variety of symptoms and may lead to lactic acidosis, a potentially life-threatening condition.
Symptoms of PDHB Gene Pyruvate Dehydrogenase E1-Beta Deficiency
The symptoms of PDHB gene deficiency can vary widely among affected individuals. Some may experience mild symptoms, while others may have severe, life-threatening complications. Common symptoms include:
- Developmental delay
- Intellectual disability
- Ataxia (lack of muscle coordination)
- Weak muscle tone (hypotonia)
- Seizures
- Lactic acidosis
- Difficulty feeding and poor growth in infancy
- Respiratory problems
It is important to note that not all individuals with PDHB gene deficiency will have all these symptoms, and the severity of symptoms can vary significantly.
PDHB Gene Pyruvate Dehydrogenase E1-Beta Deficiency Genetic Test at DNA Labs UAE
At DNA Labs UAE, we offer the PDHB Gene Pyruvate Dehydrogenase E1-Beta Deficiency Genetic Test to help diagnose this condition. The test involves analyzing the patient’s DNA to look for mutations in the PDHB gene that are known to cause the deficiency. This genetic test is a powerful tool for diagnosing PDHB gene deficiency, allowing for early intervention and management of the condition.
Cost of the PDHB Gene Pyruvate Dehydrogenase E1-Beta Deficiency Genetic Test
The cost of the PDHB Gene Pyruvate Dehydrogenase E1-Beta Deficiency Genetic Test at DNA Labs UAE is 4400 AED. This cost includes the genetic testing process, analysis, and a comprehensive report detailing the findings.
Why Choose DNA Labs UAE for Your Genetic Testing Needs?
DNA Labs UAE is committed to providing high-quality, accurate genetic testing services. Our state-of-the-art laboratory is equipped with the latest technology, and our team of genetic experts is dedicated to delivering reliable results. By choosing DNA Labs UAE for your genetic testing needs, you can be assured of receiving the best care and support throughout the testing process.
For more information about the PDHB Gene Pyruvate Dehydrogenase E1-Beta Deficiency Genetic Test and other genetic testing services we offer, please visit our website at https://dnalabsuae.com/tests/pdhb-gene-pyruvate-dehydrogenase-e1-beta-deficiency-genetic-test/.
Understanding the symptoms and seeking timely genetic testing can make a significant difference in the management of PDHB gene pyruvate dehydrogenase E1-beta deficiency. If you or a loved one are experiencing symptoms related to this condition, we encourage you to reach out to DNA Labs UAE for more information on how we can assist you.
