Understanding the complexities of genetic conditions is crucial for early diagnosis and intervention, especially in the case of rare genetic disorders such as Early Infantile Epileptic Encephalopathy Type 47 (EIEE47). This condition, caused by mutations in the FGF12 gene, presents a significant challenge to affected families due to its severe symptoms and impact on the quality of life. DNA Labs UAE offers a comprehensive genetic test for this condition, aiming to provide families with early detection and the possibility of better management of the condition.
The FGF12 gene plays a vital role in the normal development and function of the nervous system. Mutations in this gene can lead to EIEE47, a condition characterized by early onset of seizures and significant developmental delay. Recognizing the symptoms early in an infant’s life is crucial for timely intervention.
Symptoms of EIEE47
The symptoms of EIEE47 can vary but typically include a range of neurological and developmental issues. These may include:
- Severe seizures that begin in the first few months of life, often resistant to standard anti-seizure medications.
- Significant developmental delay, with affected children often unable to achieve milestones such as sitting, crawling, or speaking at the expected ages.
- Issues with muscle tone, either being too stiff or too floppy (hypertonia or hypotonia).
- Feeding difficulties, which may necessitate nutritional support through a feeding tube in some cases.
- Microcephaly, a condition where the head circumference is smaller than normal for an infant’s age and sex.
- Visual impairment, including potential difficulty in tracking objects or making eye contact.
It’s important to note that the severity and combination of these symptoms can vary widely among affected individuals. Early diagnosis through genetic testing can be crucial in managing the condition and improving the quality of life for those affected.
FGF12 Gene Early Infantile Epileptic Encephalopathy Type 47 Genetic Test
DNA Labs UAE offers a specialized genetic test for EIEE47, aimed at detecting mutations in the FGF12 gene. This test is a valuable tool for families seeking answers about unexplained seizures and developmental delays in their infants. By confirming the presence of a mutation in the FGF12 gene, this test can help guide treatment decisions, support applications for specialized care and therapies, and provide information on the risk of recurrence in future pregnancies.
The cost of the FGF12 gene test at DNA Labs UAE is 4400 AED. While the cost may seem significant, the value of early diagnosis and the potential for targeted intervention cannot be overstated. Early identification of EIEE47 can open doors to specialized care and therapies that may significantly improve an affected child’s development and quality of life.
For more information on the FGF12 gene test and to schedule an appointment, please visit DNA Labs UAE. Our team of experts is dedicated to providing comprehensive support and guidance to families navigating the complexities of genetic disorders.
Understanding and managing a condition like EIEE47 requires a multidisciplinary approach, including genetic counseling, specialized medical care, and supportive therapies. DNA Labs UAE is committed to being a part of your family’s journey, offering cutting-edge genetic testing services to help illuminate the path forward.
