Symptoms of PIK3R5 Gene Ataxia-Oculomotor Apraxia Type 3 Genetic Test
Ataxia-Oculomotor Apraxia Type 3 (AOA3) is a rare genetic disorder that affects the nervous system, leading to a variety of symptoms that can significantly impact an individual’s quality of life. This condition is caused by mutations in the PIK3R5 gene, which plays a crucial role in the development and function of nerve cells. Understanding the symptoms of this disorder is essential for early diagnosis and treatment. DNA Labs UAE offers a comprehensive genetic test for AOA3, priced at 4400 AED, to help identify the condition in affected individuals.
Key Symptoms of AOA3
The symptoms of AOA3 can vary widely among individuals but typically include a combination of neurological and motor dysfunctions. The most common symptoms observed in patients with AOA3 are:
- Ataxia: This is the primary symptom of AOA3, characterized by a lack of muscle control or coordination of voluntary movements, such as walking or picking up objects.
- Oculomotor Apraxia: This condition involves difficulty in moving the eyes on command, leading to problems in following objects with the eyes or looking from one place to another.
- Peripheral Neuropathy: Patients may experience weakness, numbness, and pain from nerve damage, usually in the hands and feet.
- Cognitive Impairment: Some individuals with AOA3 may face challenges with thinking, memory, and concentration.
- Movement Disorders: This can include tremors, involuntary movements, and muscle stiffness.
- Sensorineural Hearing Loss: Hearing impairment due to nerve damage is also common among individuals with AOA3.
It’s important to note that the severity and combination of these symptoms can vary, making early and accurate diagnosis crucial for managing the condition effectively.
Genetic Testing for AOA3
Genetic testing for AOA3 through the PIK3R5 gene is a powerful tool in diagnosing this condition. DNA Labs UAE offers a specialized test for this purpose, allowing for the precise identification of mutations in the PIK3R5 gene that cause AOA3. The test, priced at 4400 AED, involves collecting a small sample of blood or saliva from the patient. This sample is then analyzed in our state-of-the-art laboratory to detect any genetic abnormalities associated with AOA3.
The benefits of undergoing genetic testing for AOA3 include:
- Early diagnosis, which can significantly improve the management of the condition.
- Understanding the risk of passing the condition to future generations.
- Enabling targeted treatments and interventions that can improve symptoms and quality of life.
For more information on the PIK3R5 gene Ataxia-Oculomotor Apraxia Type 3 genetic test and to schedule your test, please visit our website.
At DNA Labs UAE, we are committed to providing accurate and comprehensive genetic testing services to help individuals and families understand their genetic health. Our team of experts is here to guide you through the process and support you in making informed decisions about your health and wellbeing.
