Symptoms and Testing information for GRIN2D Gene Early infantile epileptic encephalopathy type 46 Genetic Test

Symptoms and Testing information for GRIN2D Gene Early infantile epileptic encephalopathy type 46 Genetic Test

Understanding the complexities of genetic conditions is essential for early diagnosis and management. One such condition that has gained attention in the medical community is Early Infantile Epileptic Encephalopathy Type 46 (EIEE46), caused by mutations in the GRIN2D gene. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the GRIN2D Gene Early Infantile Epileptic Encephalopathy Type 46 Genetic Test, to help families and physicians identify this condition in affected individuals.

Symptoms of GRIN2D Gene Early Infantile Epileptic Encephalopathy Type 46

EIEE46 is a severe neurological disorder that manifests early in infancy. The condition is characterized by frequent seizures that are resistant to standard antiepileptic drugs, making management and treatment challenging. The seizures typically begin in the first few months of life. Besides seizures, children with EIEE46 may exhibit developmental delays and intellectual disabilities as they grow. Other symptoms can include:

  • Spasticity or muscle stiffness
  • Impaired motor functions
  • Difficulty with coordination and balance
  • Behavioral abnormalities
  • Feeding difficulties in infancy

It is crucial for parents and caregivers to be aware of these symptoms, as early diagnosis through genetic testing can significantly impact the management and outcome of the condition.

GRIN2D Gene Early Infantile Epileptic Encephalopathy Type 46 Genetic Test

DNA Labs UAE offers a specialized genetic test to identify mutations in the GRIN2D gene, which is responsible for EIEE46. This test is a vital tool for confirming the diagnosis in infants who exhibit symptoms suggestive of the disorder. By analyzing the patient’s DNA, the test can detect specific mutations in the GRIN2D gene that are known to cause EIEE46.

The genetic test is recommended for infants who have experienced seizures that do not respond to standard treatments and who may show signs of developmental delay or other neurological symptoms. It is also suggested for families with a history of EIEE46 or related neurological conditions, as it can provide valuable information for family planning and genetic counseling.

Test Cost and Procedure

The cost of the GRIN2D Gene Early Infantile Epileptic Encephalopathy Type 46 Genetic Test at DNA Labs UAE is 4400 AED. The test is performed using a blood sample from the patient, which is then analyzed using advanced genetic sequencing technologies to identify any mutations in the GRIN2D gene.

The procedure is straightforward and minimally invasive, making it suitable for infants and young children. Once the sample is collected, it is sent to the laboratory for analysis, and the results are typically available within a few weeks. The test results will provide a definitive diagnosis and guide the clinical management of the condition.

Conclusion

Early diagnosis of Early Infantile Epileptic Encephalopathy Type 46 through genetic testing is crucial for the effective management of the condition. DNA Labs UAE is committed to providing accurate and timely genetic testing services, including the GRIN2D Gene Early Infantile Epileptic Encephalopathy Type 46 Genetic Test, to help families and healthcare providers make informed decisions about care and treatment. For more information about the test and to schedule an appointment, please visit DNA Labs UAE.

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