Understanding the genetic underpinnings of neurological disorders has become a pivotal aspect of modern medicine, offering insights into diagnosis, management, and potential treatment options. Among these, the WWOX gene’s role in early infantile epileptic encephalopathy type 28 (EIEE28) has garnered significant attention. This condition, characterized by severe neurological impairment beginning in infancy, necessitates a comprehensive approach to diagnosis and management, where genetic testing plays a crucial role. At DNA Labs UAE, we provide a specialized genetic test for EIEE28, offering families and healthcare professionals critical information for managing this challenging condition.
Symptoms of WWOX Gene Early Infantile Epileptic Encephalopathy Type 28
The symptoms associated with EIEE28 due to mutations in the WWOX gene are profound and impact various aspects of neurological function. These symptoms typically manifest early in life, often within the first few months after birth. Key symptoms include:
- Severe developmental delay: Affected infants show significant delays in reaching developmental milestones such as sitting, crawling, or walking.
- Refractory seizures: One of the hallmark features of EIEE28 is the occurrence of difficult-to-control seizures that do not respond well to standard antiepileptic medications.
- Spasticity: Increased muscle tone, leading to stiffness and restricted movement, is a common symptom.
- Microcephaly: Some children with EIEE28 may have a smaller than normal head size, indicative of impaired brain growth.
- Impaired cognitive function: Intellectual disability is a profound and pervasive aspect of this condition, affecting nearly all individuals diagnosed with EIEE28.
Given the severity and complexity of these symptoms, early and accurate diagnosis is crucial for managing EIEE28. This is where genetic testing comes into play.
WWOX Gene Early Infantile Epileptic Encephalopathy Type 28 Genetic Test
At DNA Labs UAE, we offer a comprehensive genetic test specifically designed to detect mutations in the WWOX gene associated with EIEE28. This test is a critical step in confirming the diagnosis, enabling targeted management strategies, and providing families with essential prognostic information. The testing process involves collecting a small sample of DNA, usually through a blood draw or cheek swab, which is then analyzed in our state-of-the-art laboratory.
The cost of the WWOX gene EIEE28 genetic test at DNA Labs UAE is 4400 AED. While the cost may seem substantial, it is important to consider the value of the information provided by this test. An accurate diagnosis can significantly impact the management approach, including the selection of appropriate therapies and interventions, and provide families with much-needed answers regarding their child’s condition.
For more information about the WWOX gene EIEE28 genetic test and to schedule a consultation, please visit our website: DNA Labs UAE.
Understanding the genetic basis of diseases like EIEE28 is at the forefront of personalized medicine. At DNA Labs UAE, we are committed to providing the highest quality genetic testing services, helping families navigate the complexities of genetic disorders, and contributing to the advancement of medical science. Our team of experts is dedicated to offering support throughout the testing process, ensuring that each family receives the care and information they need to make informed decisions about their health.
