Symptoms and Testing information for PDHA1 Gene Leigh syndrome X-linked Genetic Test

Symptoms and Testing information for PDHA1 Gene Leigh syndrome X-linked Genetic Test

At DNA Labs UAE, we understand the importance of accurate genetic testing for the diagnosis and management of various genetic conditions. One such condition is Leigh syndrome, a severe neurological disorder that affects individuals from an early age. Leigh syndrome associated with the PDHA1 gene is X-linked, meaning it predominantly affects males, though carrier females may exhibit some symptoms or none at all. Our state-of-the-art genetic testing services include the PDHA1 Gene Leigh Syndrome X-linked Genetic Test, designed to identify mutations in the PDHA1 gene that are responsible for this condition.

Understanding PDHA1 Gene Leigh Syndrome

Leigh syndrome, also known as subacute necrotizing encephalomyelopathy, is a progressive neurodegenerative disorder. It primarily affects the central nervous system, leading to motor and intellectual developmental delays, muscle weakness, and respiratory problems. The X-linked form of Leigh syndrome, caused by mutations in the PDHA1 gene, can result in a range of symptoms that vary significantly in severity among affected individuals.

Symptoms of PDHA1 Gene Leigh Syndrome

The symptoms of PDHA1 Gene Leigh Syndrome can manifest shortly after birth or during early childhood. Recognizing these symptoms early is crucial for the management and treatment of the condition. Common symptoms include:

  • Developmental delays, including in motor skills and speech
  • Muscle weakness and hypotonia (reduced muscle tone)
  • Problems with coordination and movement
  • Respiratory difficulties
  • Seizures
  • Lactic acidosis (a buildup of lactic acid in the body)
  • Difficulty swallowing
  • Failure to thrive in infancy

It is important to note that the severity and combination of these symptoms can vary widely among affected individuals. Some may experience mild symptoms, while others may have severe manifestations of the disease.

The Importance of Genetic Testing

Genetic testing plays a pivotal role in the diagnosis of Leigh syndrome. The PDHA1 Gene Leigh Syndrome X-linked Genetic Test offered by DNA Labs UAE is specifically designed to identify mutations in the PDHA1 gene. This test not only helps in confirming a diagnosis but also aids in understanding the course of the disease, potential treatments, and management strategies. Early diagnosis through genetic testing can significantly improve the quality of life for individuals with Leigh syndrome and their families.

PDHA1 Gene Leigh Syndrome X-linked Genetic Test Cost

The cost of the PDHA1 Gene Leigh Syndrome X-linked Genetic Test at DNA Labs UAE is 4400 AED. While the cost may seem significant, the value of the information gained from this test cannot be overstated. It provides families and healthcare providers with crucial data for making informed decisions about care and management.

Why Choose DNA Labs UAE?

At DNA Labs UAE, we are committed to providing our clients with the highest quality genetic testing services. Our state-of-the-art facilities and highly qualified team of geneticists and laboratory technicians ensure accurate and reliable test results. We understand the emotional and medical significance of genetic testing for families, which is why we offer comprehensive support and counseling throughout the testing process.

For more information about the PDHA1 Gene Leigh Syndrome X-linked Genetic Test and to schedule your appointment, please visit our website at

Early detection and diagnosis are key to managing Leigh syndrome effectively. If you or a loved one are experiencing symptoms associated with this condition, or if there’s a family history of Leigh syndrome, consider reaching out to DNA Labs UAE for a consultation. Our expert team is here to guide you through the process, providing support and care every step of the way.

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