PNKP Gene Early Infantile Epileptic Encephalopathy Type 10 NGS Genetic DNA Test
The PNKP Gene Early Infantile Epileptic Encephalopathy Type 10 NGS Genetic DNA Test is an advanced diagnostic tool that plays a critical role in understanding the genetic underpinnings of neurological disorders. This test utilizes Next Generation Sequencing (NGS) technology to analyze the PNKP gene, which is associated with early infantile epileptic encephalopathy. Accurate diagnosis through this test can lead to better management and treatment options for affected individuals.
What the Test Measures
This genetic test focuses on identifying mutations in the PNKP gene. By detecting these mutations, healthcare providers can better understand the cause of early infantile epileptic encephalopathy in patients, which can present with seizures and developmental delays.
Who Should Consider This Test
Individuals who should consider the PNKP Gene test include:
- Infants and children exhibiting symptoms of severe epilepsy.
- Patients with a family history of neurological disorders.
- Individuals experiencing developmental delays alongside seizure activity.
Benefits of Taking the Test
Taking the PNKP Gene Early Infantile Epileptic Encephalopathy Type 10 NGS Genetic DNA Test offers several benefits:
- Provides clarity on the genetic factors contributing to neurological symptoms.
- Guides treatment decisions based on specific genetic findings.
- Facilitates genetic counseling for families, helping them understand risks for future pregnancies.
- May lead to targeted therapies that improve quality of life for patients.
Understanding Your Results
Results from the PNKP Gene test will be interpreted by a qualified neurologist. A positive result may indicate the presence of a mutation that could explain the patient’s symptoms, while a negative result may provide reassurance. It is important to discuss results with a healthcare professional who can provide guidance on next steps.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
PNKP Gene Early Infantile Epileptic Encephalopathy Type 10 NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Sample Type and Instructions
The sample type required for this test can be:
- Blood
- Extracted DNA
- One drop of blood on FTA Card
Prior to the test, a clinical history of the patient is necessary, along with a genetic counseling session to create a pedigree chart of affected family members.
Book Your Test Today!
We have branches across all major cities in Kenya, including Nairobi, Mombasa, and Kisumu. For your convenience, we also offer home sample collection services. To book the PNKP Gene Early Infantile Epileptic Encephalopathy Type 10 NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.