PIGA Gene Early Infantile Epileptic Encephalopathy Type 20 NGS Genetic DNA Test
Comprehensive Introduction to PIGA Gene Testing
The PIGA Gene Early Infantile Epileptic Encephalopathy Type 20 NGS Genetic DNA Test represents a breakthrough in pediatric neurological diagnostics. This advanced genetic screening specifically targets mutations in the PIGA (Phosphatidylinositol Glycan Anchor Biosynthesis Class A) gene, which plays a critical role in the glycosylphosphatidylinositol (GPI) anchor biosynthesis pathway. Disruptions in this pathway lead to severe neurological manifestations known as Early Infantile Epileptic Encephalopathy Type 20, a condition characterized by treatment-resistant seizures, developmental regression, and significant neurological impairment.
What This Test Measures and Detects
Our comprehensive NGS-based analysis examines the entire coding region of the PIGA gene to identify:
- Point mutations, insertions, and deletions in the PIGA gene
- Pathogenic variants associated with GPI anchor deficiency
- X-linked inheritance patterns characteristic of PIGA-related disorders
- Specific genetic markers linked to seizure onset and severity
- Variants affecting protein function and cellular membrane anchoring
Clinical Significance of PIGA Mutations
PIGA gene mutations disrupt the biosynthesis of GPI anchors, which are essential for attaching various proteins to cell surfaces. This disruption affects neuronal development, synaptic function, and overall brain connectivity, leading to the severe epileptic encephalopathy observed in affected infants.
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for infants and children presenting with:
- Early-onset seizures within the first 3 months of life
- Developmental regression or stagnation
- Hypotonia (reduced muscle tone) and movement disorders
- Abnormal EEG patterns consistent with epileptic encephalopathy
- Family history of X-linked neurological disorders
- Unexplained infantile spasms or myoclonic seizures
- Co-occurring features like facial dysmorphism or organ involvement
Critical Timing for Testing
Early genetic diagnosis is crucial as symptoms typically manifest within the first weeks to months of life. Prompt testing enables timely intervention and management strategies that can significantly impact long-term outcomes.
Benefits of PIGA Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of EIEE Type 20
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Family Planning: Assists in genetic counseling for future pregnancies
- Early Intervention: Facilitates prompt initiation of appropriate medical management
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling service helps interpret your results:
Positive Result Interpretation
A positive result indicates the presence of a pathogenic mutation in the PIGA gene. This confirms the diagnosis of Early Infantile Epileptic Encephalopathy Type 20 and provides essential information for:
- Developing targeted seizure management strategies
- Implementing appropriate developmental support services
- Planning long-term care and monitoring protocols
- Understanding inheritance patterns for family members
Negative Result Interpretation
A negative result suggests that no pathogenic PIGA mutations were detected. However, this doesn’t completely rule out other genetic causes of epileptic encephalopathy, and further testing may be recommended based on clinical presentation.
Variant of Uncertain Significance
In some cases, genetic changes of unknown clinical significance may be identified. Our genetic counselors provide ongoing support and monitoring as research evolves to clarify these findings.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | PIGA Gene Early Infantile Epileptic Encephalopathy Type 20 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of neurological symptoms and seizure characteristics
- Previous diagnostic test results and imaging studies
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our network of certified genetic counselors and neurologists ensures comprehensive care regardless of your location.
Take Action Today
Don’t wait to get the answers you need for your child’s neurological health. Early genetic diagnosis can make a significant difference in treatment outcomes and quality of life. Our team of specialized neurologists and genetic counselors is ready to provide the comprehensive care and support your family deserves.
Book your PIGA Gene Test today by calling +1(267) 388-9828 or schedule your appointment through our online booking system. Take the first step toward understanding and managing your child’s neurological condition with confidence and clarity.
