Symptoms and Testing information for PNKP Gene Ataxia-Oculomotor Apraxia Type 4 Genetic Test

Symptoms and Testing information for PNKP Gene Ataxia-Oculomotor Apraxia Type 4 Genetic Test

At DNA Labs UAE, we are dedicated to providing advanced genetic testing services to help individuals and families understand their genetic makeup and its implications on their health. One of the specialized tests we offer is the PNKP Gene Ataxia-Oculomotor Apraxia Type 4 Genetic Test. This test is crucial for diagnosing Ataxia-Oculomotor Apraxia Type 4 (AOA4), a rare genetic disorder that affects various neurological functions. Understanding the symptoms of this condition is the first step towards managing it effectively.

Symptoms of Ataxia-Oculomotor Apraxia Type 4 (AOA4)

Ataxia-Oculomotor Apraxia Type 4 is characterized by a range of symptoms that typically begin in childhood or adolescence. These symptoms are a result of the body’s inability to repair DNA damage due to the mutation in the PNKP gene. The most common symptoms include:

  • Difficulty coordinating movements (ataxia), which affects walking and can lead to frequent falls.
  • Eye movement abnormalities, particularly oculomotor apraxia, which is the difficulty in moving the eyes horizontally.
  • Neuropathy, which can cause weakness and loss of sensation in the limbs.
  • Microcephaly in some cases, which is a condition where the head circumference is smaller than normal for a person’s age and sex.
  • Intellectual disability or developmental delays may also be present.
  • Seizures, although not common, can occur in some individuals.

It’s important to note that the severity and combination of these symptoms can vary significantly among individuals with AOA4.

Importance of Genetic Testing for AOA4

Genetic testing for Ataxia-Oculomotor Apraxia Type 4 is critical for a definitive diagnosis. The PNKP Gene Ataxia-Oculomotor Apraxia Type 4 Genetic Test offered by DNA Labs UAE can identify mutations in the PNKP gene, confirming the presence of the disorder. This information is vital for planning appropriate management strategies and understanding the risk of passing the condition to future generations.

Test Cost

The cost of the PNKP Gene Ataxia-Oculomotor Apraxia Type 4 Genetic Test at DNA Labs UAE is 4400 AED. While the cost may seem significant, it is a valuable investment in your health and well-being. Early diagnosis can lead to better management of the condition and improve the quality of life for those affected.

Why Choose DNA Labs UAE?

At DNA Labs UAE, we are committed to providing our clients with accurate, reliable, and confidential genetic testing services. Our state-of-the-art laboratory is equipped with the latest technology, and our team of experts is dedicated to delivering the highest standard of care. We understand the importance of genetic testing in diagnosing and managing genetic disorders, and we strive to make our services accessible and affordable to all.

For more information about the PNKP Gene Ataxia-Oculomotor Apraxia Type 4 Genetic Test and other services we offer, please visit our website at DNA Labs UAE.

Understanding your genetic health is a powerful step towards taking control of your well-being. If you or a loved one is experiencing symptoms that may be indicative of Ataxia-Oculomotor Apraxia Type 4, consider the PNKP Gene Ataxia-Oculomotor Apraxia Type 4 Genetic Test. Early diagnosis and intervention can make a significant difference in managing the condition and enhancing the quality of life.

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