PCDH19 Gene Early Infantile Epileptic Encephalopathy Type 9 NGS Genetic DNA Test
Understanding PCDH19-Related Epileptic Encephalopathy
PCDH19-related epileptic encephalopathy, also known as Early Infantile Epileptic Encephalopathy Type 9 (EIEE9), is a rare genetic neurological disorder characterized by early-onset seizures that typically begin in infancy. This condition is caused by mutations in the PCDH19 gene located on the X chromosome, which plays a crucial role in brain development and neuronal communication. The disorder primarily affects females, though males can also be affected through specific genetic mechanisms.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based genetic test specifically targets the PCDH19 gene to identify pathogenic variants responsible for EIEE9. The test examines:
- Point mutations and small insertions/deletions in the PCDH19 gene
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting gene expression
- Complete gene sequencing for comprehensive mutation detection
Clinical Indications and Who Should Consider Testing
This genetic test is recommended for individuals presenting with:
- Early-onset seizures beginning between 3 months and 3 years of age
- Cluster seizures occurring in groups over short periods
- Developmental regression following seizure onset
- Cognitive impairment or intellectual disability
- Behavioral abnormalities including autism spectrum features
- Family history of similar seizure disorders
- Females with unexplained epilepsy syndromes
Key Benefits of PCDH19 Genetic Testing
Early genetic diagnosis through our advanced NGS testing provides numerous advantages:
- Accurate Diagnosis: Confirms the specific genetic cause of epilepsy
- Personalized Treatment: Enables targeted anti-epileptic medication selection
- Prognostic Information: Helps predict disease course and outcomes
- Genetic Counseling: Supports family planning and recurrence risk assessment
- Early Intervention: Facilitates timely developmental support services
- Research Participation: Connects families with clinical trials and support networks
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of findings:
- Positive Result: Identifies a pathogenic PCDH19 mutation confirming diagnosis
- Negative Result: No mutation detected, though clinical correlation is essential
- Variant of Uncertain Significance: Requires further clinical evaluation
- Carrier Status: Important for family members and reproductive planning
All results are accompanied by detailed explanations and recommendations from our board-certified genetic counselors and neurologists.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | PCDH19 Gene Early Infantile Epileptic Encephalopathy Type 9 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality testing standards nationwide.
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our specialists
- Family pedigree analysis for inheritance pattern assessment
- Neurological evaluation and seizure documentation
Take the Next Step Toward Answers
Don’t let uncertainty about your child’s neurological symptoms continue. Early genetic diagnosis can make a significant difference in treatment outcomes and quality of life. Our team of genetic specialists and neurologists is ready to help you navigate this important diagnostic journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the PCDH19 Gene Test. Take control of your family’s neurological health with definitive genetic answers.
