Symptoms and Testing information for WDR81 Gene Cerebellar Ataxia with Mental Retardation and Dysequilibrium Syndrome Type 2 Genetic Test

Symptoms and Testing information for WDR81 Gene Cerebellar Ataxia with Mental Retardation and Dysequilibrium Syndrome Type 2 Genetic Test

At DNA Labs UAE, we are committed to providing comprehensive genetic testing services to help diagnose a variety of genetic conditions, including the rare WDR81 gene cerebellar ataxia with mental retardation and dysequilibrium syndrome type 2. This condition, although rare, has significant implications for affected individuals and their families, making early and accurate diagnosis crucial for effective management and care.

The WDR81 gene plays a critical role in brain development, particularly in the cerebellum, which is responsible for coordinating movement. Mutations in this gene can lead to cerebellar ataxia, a disorder characterized by a lack of muscle coordination that can affect speech, eye movements, the ability to swallow, walking, and other voluntary movements. In addition to cerebellar ataxia, mutations in the WDR81 gene can also cause mental retardation and dysequilibrium syndrome (CAMRQ2), a condition that combines cerebellar ataxia with cognitive deficits and a particular form of balance disorder that prevents affected individuals from walking unaided.

Symptoms of WDR81 gene cerebellar ataxia with mental retardation and dysequilibrium syndrome type 2 can vary but typically include:

  • Delayed development, particularly in walking and talking
  • Difficulty with coordination and balance, leading to frequent falls
  • Intellectual disability ranging from mild to severe
  • Problems with speech and language development
  • Abnormal eye movements
  • A wide-based gait
  • Difficulty performing tasks that require fine motor skills

Given the complexity and variability of symptoms, genetic testing for the WDR81 gene is essential for a definitive diagnosis. DNA Labs UAE offers a specialized genetic test for the WDR81 gene cerebellar ataxia with mental retardation and dysequilibrium syndrome type 2, providing a crucial tool for families seeking answers. The test is priced at 4400 AED, reflecting our commitment to making advanced genetic testing accessible to our clients.

Our state-of-the-art laboratory is equipped with the latest in genetic testing technology, ensuring accurate and reliable results. The testing process is straightforward and involves collecting a small sample of blood or saliva from the affected individual. Our team of genetic experts then analyzes the sample for mutations in the WDR81 gene that are known to cause the condition. Results are typically available within a few weeks and are accompanied by a comprehensive report that explains the findings in detail.

Understanding the genetic basis of cerebellar ataxia with mental retardation and dysequilibrium syndrome type 2 can significantly impact the management and treatment of the condition. While there is currently no cure, early diagnosis can enable targeted interventions that may improve quality of life and help manage symptoms more effectively. These may include physical therapy, speech therapy, and educational support, among other interventions tailored to the individual’s needs.

For more information about the WDR81 gene cerebellar ataxia with mental retardation and dysequilibrium syndrome type 2 genetic test, including how to order the test, please visit our website at DNA Labs UAE.

At DNA Labs UAE, we are dedicated to providing the highest quality genetic testing services to our clients. Our team of experts is available to answer any questions you may have about the WDR81 gene test or any of our other services. Contact us today to learn more about how we can support you and your family’s genetic health needs.

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