Understanding the genetic underpinnings of various diseases has been a significant breakthrough in modern medicine. Among these, the GABRB1 gene’s role in early infantile epileptic encephalopathy type 45 (EIEE45) is a critical area of study. DNA Labs UAE is at the forefront of this research, offering a comprehensive genetic test for this condition. This article delves into the symptoms associated with mutations in the GABRB1 gene, the significance of early detection, and details about the genetic test available, including its cost.
Symptoms of GABRB1 Gene Mutation
The GABRB1 gene is essential for the normal functioning of the brain. Mutations in this gene can lead to early infantile epileptic encephalopathy type 45 (EIEE45), a severe neurological disorder. The symptoms of this condition typically manifest early in infancy and include a range of epileptic episodes characterized by:
- Frequent seizures that are often resistant to traditional epilepsy treatments.
- Developmental delays, including difficulties in learning to walk or talk.
- Intellectual disability, which can vary in severity.
- Problems with coordination and movement.
- A potential decline in cognitive functions over time.
These symptoms not only affect the quality of life of the individuals but also pose significant challenges for their families. Early diagnosis and intervention are crucial for managing the condition and improving the overall prognosis.
Importance of Early Detection and Genetic Testing
Early detection of mutations in the GABRB1 gene can significantly alter the course of treatment and management for children with EIEE45. Genetic testing plays a pivotal role in this early detection process. By identifying the specific mutation causing the disorder, healthcare providers can tailor treatment plans to better manage symptoms and potentially slow the progression of the disease.
DNA Labs UAE offers a specialized genetic test for the GABRB1 gene to facilitate this early detection. The test is designed to be highly accurate, ensuring that families receive reliable results. By understanding the genetic basis of their child’s condition, parents can make informed decisions about their care and access appropriate support services.
Details of the GABRB1 Gene Genetic Test at DNA Labs UAE
The genetic test for the GABRB1 gene provided by DNA Labs UAE is a comprehensive analysis aimed at identifying mutations associated with early infantile epileptic encephalopathy type 45. This test is critical for families with a history of the condition or for infants showing symptoms indicative of EIEE45.
The cost of the genetic test is 4400 AED, which is a valuable investment in your child’s health and well-being. While the cost may seem significant, the insights gained from the test can be invaluable in managing the condition effectively.
For more information about the GABRB1 gene genetic test and to schedule an appointment, please visit DNA Labs UAE. Our team of experts is dedicated to providing the highest quality genetic testing services to help families navigate the challenges of genetic disorders like EIEE45.
In conclusion, understanding and managing the symptoms of early infantile epileptic encephalopathy type 45 starts with accurate genetic testing. DNA Labs UAE is committed to offering this crucial service, empowering families with the knowledge they need to provide the best care for their loved ones affected by this condition.
