Symptoms and Testing information for SPTAN1 Gene Early infantile epileptic encephalopathy type 5 Genetic Test

Symptoms and Testing information for SPTAN1 Gene Early infantile epileptic encephalopathy type 5 Genetic Test

DNA Labs UAE is at the forefront of genetic testing, providing comprehensive services to diagnose and understand a variety of genetic conditions. Among the critical tests offered is the SPTAN1 Gene Early Infantile Epileptic Encephalopathy Type 5 Genetic Test. This particular test is pivotal for diagnosing a rare and severe form of epilepsy that begins in infancy, known as Early Infantile Epileptic Encephalopathy (EIEE) type 5, which is linked to mutations in the SPTAN1 gene.

Symptoms of SPTAN1 Gene Early Infantile Epileptic Encephalopathy Type 5

The condition characterized by the SPTAN1 mutation manifests early in life, often presenting a range of neurological symptoms that can significantly impact the affected infant’s development and overall quality of life. Recognizing the symptoms early is crucial for timely intervention and management. The primary symptoms associated with this condition include:

  • Severe Epileptic Seizures: Infants with this condition often experience frequent and severe seizures that are difficult to control with standard epilepsy medications.
  • Developmental Delay: There is usually a noticeable delay in reaching developmental milestones such as sitting, crawling, or walking. Cognitive development is also significantly affected.
  • Spasticity: Increased muscle tone or stiffness, which can interfere with movement and posture, is commonly observed.
  • Microcephaly: Some affected individuals may have a smaller head size, which can indicate a brain development issue.
  • Intellectual Disability: Most children affected by this condition will experience some degree of intellectual disability.

It’s important to note that the severity and combination of these symptoms can vary from one individual to another. Early diagnosis through genetic testing can provide families with the information needed to manage the condition more effectively.

Understanding the SPTAN1 Gene Early Infantile Epileptic Encephalopathy Type 5 Genetic Test

The genetic test for EIEE type 5 is a sophisticated analysis aimed at detecting mutations in the SPTAN1 gene. These mutations are responsible for the severe symptoms associated with the condition. The test involves collecting a small sample of DNA, usually through a blood sample, and analyzing it in the lab for the presence of specific genetic alterations.

Given the complexity and the specialized nature of this test, it is conducted with the highest standards of accuracy and sensitivity, ensuring that families receive reliable results. The outcome of this test can guide doctors in tailoring a management and treatment plan that addresses the specific needs of the child.

Test Cost and How to Proceed

The cost for the SPTAN1 Gene Early Infantile Epileptic Encephalopathy Type 5 Genetic Test is 4400 AED. This investment covers the full spectrum of services, including the collection of the sample, the genetic analysis, and the comprehensive report detailing the findings. For families considering this test, DNA Labs UAE provides detailed information and support throughout the process.

To learn more about this test or to schedule an appointment, please visit our website: DNA Labs UAE.

Understanding the genetic underpinnings of severe conditions like Early Infantile Epileptic Encephalopathy type 5 is crucial for effective management and care. Through advanced genetic testing, DNA Labs UAE is committed to providing families with the insights and support they need to navigate these challenging circumstances.

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