Eef1a2 Gene Early Infantile Epileptic Encephalopathy Type 33 NGS Genetic DNA Test
Introduction to the Test
The Eef1a2 Gene Early Infantile Epileptic Encephalopathy Type 33 NGS Genetic DNA Test is a specialized genetic test that plays a crucial role in diagnosing early infantile epileptic encephalopathy (EIEE) associated with mutations in the EEF1A2 gene. This condition can lead to severe neurological impairments and understanding its genetic basis is essential for effective management and treatment. This test utilizes Next Generation Sequencing (NGS) technology, providing comprehensive insights into the genetic factors influencing neurological disorders.
What the Test Measures
This test detects mutations in the EEF1A2 gene, which are linked to early infantile epileptic encephalopathy type 33. By analyzing the DNA, healthcare providers can identify specific genetic changes that may be responsible for the patient’s symptoms.
Who Should Consider This Test?
Parents or guardians should consider this test for infants exhibiting symptoms such as:
- Severe developmental delays
- Frequent seizures
- Unexplained neurological impairments
- Family history of genetic disorders
Risk factors may include a known family history of epilepsy or other neurological conditions, making this test vital for early diagnosis and intervention.
Benefits of Taking the Test
Taking the Eef1a2 Gene Early Infantile Epileptic Encephalopathy Type 33 NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of genetic causes of epilepsy
- Guidance for treatment options and management strategies
- Informed family planning for at-risk families
- Access to genetic counseling for better understanding of the condition
Understanding Your Results
Results from the Eef1a2 Gene test will be provided in a detailed report. It is crucial to discuss these results with a qualified healthcare provider, preferably a neurologist or genetic counselor, who can help interpret the findings in the context of the patient’s clinical history and symptoms.
Test Details and Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
Eef1a2 Gene Early Infantile Epileptic Encephalopathy Type 33 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
How to Book the Test
To book the Eef1a2 Gene Early Infantile Epileptic Encephalopathy Type 33 NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling and any questions you may have regarding the test.
Pre-Test Instructions
Before taking the test, it is essential to provide a clinical history of the patient. A genetic counseling session is recommended to draw a pedigree chart of family members affected with EEF1A2 Gene Early Infantile Epileptic Encephalopathy Type 33.
Turnaround Time and Sample Type
The expected turnaround time for results is 3 to 4 weeks. Samples can be collected as blood, extracted DNA, or one drop of blood on an FTA card.
With the Eef1a2 Gene Early Infantile Epileptic Encephalopathy Type 33 NGS Genetic DNA Test, you can take a significant step towards understanding and managing your child’s health. Book your test today!