Symptoms and Testing information for UBE3A Gene Angelman syndrome Genetic Test

Symptoms and Testing information for UBE3A Gene Angelman syndrome Genetic Test

Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characterized by severe developmental delays, problems with speech and balance, intellectual disability, and sometimes, seizures, it is a condition that has profound implications for affected individuals and their families. One of the critical steps in diagnosing this syndrome is identifying mutations or deletions in the UBE3A gene, which plays a significant role in its development. DNA Labs UAE offers a comprehensive genetic test designed to detect these genetic anomalies, providing families with crucial information for management and treatment planning.

Understanding Angelman Syndrome and the UBE3A Gene

Angelman syndrome is primarily caused by problems with the UBE3A gene located on chromosome 15. This gene is vital for normal brain development and function. In most cases, the syndrome occurs when the copy of the UBE3A gene inherited from the mother is either missing or not functioning correctly. The condition is rare, affecting approximately 1 in 12,000 to 20,000 people worldwide.

Symptoms of Angelman Syndrome

The symptoms of Angelman syndrome can vary significantly from one individual to another but generally include the following:

  • Severe developmental delays, including problems with speech and movement
  • Lack of or minimal speech
  • Walking and balance disorders
  • Laughing and smiling frequently, with an unusually happy demeanor
  • Intellectual disability
  • Seizures, which occur in more than 80% of cases
  • Difficulty sleeping and feeding problems in infants

It is crucial for parents and caregivers to be aware of these symptoms, as early diagnosis and intervention can significantly impact the management of the condition.

UB3EA Gene Angelman Syndrome Genetic Test

DNA Labs UAE offers a specialized genetic test for Angelman syndrome that focuses on identifying abnormalities in the UBE3A gene. This test is crucial for confirming the diagnosis of Angelman syndrome and can provide families with valuable information for planning care and support for their loved ones.

The test involves a simple blood draw or cheek swab from the affected individual. The sample is then analyzed in our state-of-the-art laboratory, where our team of genetic experts looks for mutations or deletions in the UBE3A gene that are indicative of Angelman syndrome.

Test Cost and Process

The cost of the UBE3A Gene Angelman Syndrome Genetic Test at DNA Labs UAE is 4400 AED. This price includes the collection of the sample, the genetic analysis, and a comprehensive report that explains the findings. Our team is committed to providing support and guidance throughout the testing process, ensuring that families have the information they need to make informed decisions about their loved one’s care.

To learn more about the UBE3A Gene Angelman Syndrome Genetic Test or to schedule an appointment, please visit our website at https://dnalabsuae.com/tests/ube3a-gene-angelman-syndrome-genetic-test/.

Conclusion

Angelman syndrome is a challenging condition that requires comprehensive care and support. Early diagnosis through genetic testing can play a critical role in managing the syndrome effectively. DNA Labs UAE is dedicated to providing accurate and reliable genetic testing services, including the UBE3A Gene Angelman Syndrome Genetic Test, to help families navigate the complexities of this condition. With our expertise and support, families can gain the insights needed to provide the best possible care for their loved ones affected by Angelman syndrome.

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