PNKP Gene Early Infantile Epileptic Encephalopathy Type 10 NGS Genetic DNA Test
Introduction
The PNKP Gene Early Infantile Epileptic Encephalopathy Type 10 NGS Genetic DNA Test is an essential diagnostic tool that helps in identifying genetic mutations associated with early infantile epileptic encephalopathy (EIEE) type 10. This test employs Next Generation Sequencing (NGS) technology to provide comprehensive insights into the genetic factors contributing to neurological disorders in infants. Understanding these genetic underpinnings is crucial for effective management and treatment of affected individuals.
What the Test Measures
This test specifically measures mutations in the PNKP gene, which is known to play a significant role in brain function and development. By analyzing the DNA, healthcare providers can determine if a genetic mutation is present that may lead to EIEE type 10.
Who Should Consider This Test
Parents or guardians of infants who exhibit symptoms such as:
- Severe seizures
- Developmental delays
- Unexplained neurological issues
Additionally, individuals with a family history of neurological disorders or genetic conditions may also benefit from this test.
Benefits of Taking the Test
- Identifies genetic causes of neurological disorders, aiding in diagnosis.
- Informs treatment options and management strategies for affected infants.
- Provides valuable information for family planning and genetic counseling.
- Helps in understanding the prognosis of the condition.
Understanding Your Results
Results from the PNKP Gene test will indicate whether a mutation is present. A genetic counselor will assist in interpreting these results and discussing potential implications for the affected child and family.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| PNKP Gene Early Infantile Epileptic Encephalopathy Type 10 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the PNKP Gene Early Infantile Epileptic Encephalopathy Type 10 NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with the booking process and provide any additional information you may need.
Pre-Test Instructions
Before taking the test, it is recommended to have a clinical history of the patient who is going for the PNKP Gene test. A genetic counseling session is also advised to draw a pedigree chart of family members affected with the PNKP Gene disorder.
Turnaround time for results is approximately 3 to 4 weeks. Sample types accepted include blood or extracted DNA, or one drop of blood on an FTA card.
