Early infantile epileptic encephalopathy (EIEE), also known as Ohtahara Syndrome, is a rare neurological disorder characterized by severe seizures and significant developmental delays. Type 21 of this condition, specifically linked to mutations in the NECAP1 gene, presents unique challenges and symptoms for affected infants. Recognizing these symptoms early on is crucial for managing the condition and improving the quality of life for these young patients. DNA Labs UAE offers a comprehensive genetic test for NECAP1 gene mutations, helping families and physicians identify this condition promptly.
Symptoms of NECAP1 Gene Early Infantile Epileptic Encephalopathy Type 21
The NECAP1 gene plays a critical role in the development and function of the nervous system. Mutations in this gene can lead to a range of neurological symptoms, most notably:
- Severe Seizures: Infants with this condition often experience frequent and severe seizures that are difficult to control with standard epilepsy treatments.
- Developmental Delays: The onset of seizures and the overall impact of the disorder can lead to significant delays in developmental milestones, including motor skills, speech, and cognitive abilities.
- Spasticity: Muscle stiffness and spasticity are common, affecting the infant’s ability to move and sometimes leading to physical deformities.
- Feeding Difficulties: Many affected infants have trouble feeding due to poor muscle control and coordination, which can lead to nutritional deficiencies and failure to thrive.
- Microcephaly: Some infants may have microcephaly, a condition where the head circumference is smaller than normal for an infant’s age and sex, indicating impaired brain growth.
It is crucial for parents and caregivers to be vigilant for these symptoms, especially if there is a family history of neurological disorders. Early diagnosis through genetic testing can provide a clear understanding of the condition and guide treatment and management strategies.
NECAP1 Gene Early Infantile Epileptic Encephalopathy Type 21 Genetic Test at DNA Labs UAE
DNA Labs UAE is at the forefront of genetic testing, offering a specific test for the NECAP1 gene mutation associated with Early Infantile Epileptic Encephalopathy Type 21. This test is a vital tool for families seeking answers to unexplained neurological symptoms in their infants. By identifying the presence of the NECAP1 gene mutation, physicians can tailor treatment plans to manage symptoms more effectively and provide families with the support and resources they need.
The cost of the NECAP1 gene test at DNA Labs UAE is 4400 AED, a worthwhile investment for families seeking clarity on their infant’s condition. The process involves a simple genetic sample from the infant, which is then analyzed in our state-of-the-art laboratory for the presence of the NECAP1 mutation.
Why Choose DNA Labs UAE for Your Genetic Testing Needs?
DNA Labs UAE is committed to providing accurate, timely, and confidential genetic testing services. Our laboratory is equipped with the latest technology and staffed by experienced geneticists and technicians. We understand the emotional and medical importance of the tests we conduct, and we strive to provide families with the answers they need to make informed decisions about their healthcare.
For more information on the NECAP1 gene Early Infantile Epileptic Encephalopathy Type 21 genetic test and to schedule your appointment, visit our website:
At DNA Labs UAE, we are dedicated to helping families navigate the complexities of genetic disorders with compassion, expertise, and the highest standards of care.
