Symptoms and Testing information for SLC13A5 Gene Early infantile epileptic encephalopathy type 25 Genetic Test

Symptoms and Testing information for SLC13A5 Gene Early infantile epileptic encephalopathy type 25 Genetic Test

Understanding the symptoms and the importance of early detection for SLC13A5 Gene Early Infantile Epileptic Encephalopathy Type 25 is crucial for parents and healthcare providers. This condition, more commonly referred to as EIEE25, is a rare genetic disorder that affects the nervous system, leading to severe epilepsy and developmental delays from infancy. DNA Labs UAE offers a comprehensive genetic test for this condition, providing families and physicians with essential information for managing and treating affected individuals.

The symptoms of SLC13A5 Gene Early Infantile Epileptic Encephalopathy Type 25 typically begin in the neonatal period or early infancy. These symptoms are often severe and can have a profound impact on the child’s development and overall quality of life. Recognizing these symptoms early on is vital for a timely diagnosis and intervention.

Symptoms of SLC13A5 Gene Early Infantile Epileptic Encephalopathy Type 25

The primary symptom of EIEE25 is the onset of frequent seizure activity within the first few days to months of life. These seizures are often resistant to standard anti-epileptic drugs, making management challenging. However, the symptoms are not limited to seizures and include a range of neurological and developmental issues:

  • Developmental Delays: Children with EIEE25 often experience significant delays in reaching developmental milestones such as sitting, crawling, and walking. They may also have difficulties with speech and language development.
  • Intellectual Disability: Most affected individuals will have some degree of intellectual disability, which can range from mild to severe.
  • Movement Disorders: Abnormalities in movement, including ataxia (lack of muscle control) or dystonia (involuntary muscle contractions), are common.
  • Behavioral Problems: Behavioral issues such as hyperactivity, autism spectrum disorders, and sleep disturbances may also be present.

Given the complexity and severity of these symptoms, early genetic testing is recommended for families with a history of EIEE25 or those whose children show early signs of the disorder. DNA Labs UAE provides a specialized SLC13A5 Gene Early Infantile Epileptic Encephalopathy Type 25 Genetic Test designed to identify mutations in the SLC13A5 gene, which is responsible for this condition.

Importance of Genetic Testing for EIEE25

Genetic testing for EIEE25 is critical for several reasons. It can confirm the diagnosis, allowing for a better understanding of the condition and its implications. It also aids in the development of a tailored treatment plan that addresses the specific needs of the child. Furthermore, genetic testing provides valuable information for family planning and the assessment of risk for future pregnancies.

Cost of the SLC13A5 Gene Early Infantile Epileptic Encephalopathy Type 25 Genetic Test

The cost of the genetic test at DNA Labs UAE is 4400 AED. While the cost may seem significant, the value it provides in terms of early diagnosis and the potential for improved management and treatment outcomes cannot be understated. Early intervention strategies can be developed based on the results, potentially enhancing the quality of life for those affected and their families.

In conclusion, recognizing the symptoms of SLC13A5 Gene Early Infantile Epileptic Encephalopathy Type 25 and understanding the importance of early genetic testing are essential steps in managing this challenging condition. DNA Labs UAE is committed to providing accurate and timely genetic testing services to support families and healthcare providers in the care of affected individuals.

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