PLCB1 Gene Early Infantile Epileptic Encephalopathy Type 12 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Infant Neurological Disorders
The PLCB1 Gene Early Infantile Epileptic Encephalopathy Type 12 NGS Genetic DNA Test represents a breakthrough in pediatric neurology diagnostics, offering precise identification of genetic mutations responsible for severe seizure disorders in infants. This advanced testing methodology provides families and healthcare providers with critical information for managing complex neurological conditions that typically manifest within the first months of life.
What This Test Measures and Detects
This specialized genetic test focuses on analyzing the PLCB1 (Phospholipase C Beta 1) gene using Next-Generation Sequencing technology to identify pathogenic variants associated with Early Infantile Epileptic Encephalopathy Type 12. The test specifically examines:
- Point mutations and small insertions/deletions in the PLCB1 gene
- Genetic variations affecting phospholipase C enzyme function
- Mutations disrupting intracellular signaling pathways
- Variants impacting neuronal development and synaptic transmission
Who Should Consider This Test
This genetic test is recommended for infants and children presenting with the following symptoms:
- Early-onset seizures within the first 3 months of life
- Developmental regression or stagnation
- Abnormal EEG patterns consistent with epileptic encephalopathy
- Hypotonia (reduced muscle tone) or hypertonia
- Microcephaly or abnormal head growth patterns
- Family history of similar neurological disorders
- Unexplained developmental delays with seizure activity
Clinical Benefits of PLCB1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Definitive Diagnosis: Confirms or rules out PLCB1-related epileptic encephalopathy
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Prognostic Information: Provides insight into disease progression and expected outcomes
- Genetic Counseling: Supports family planning decisions and recurrence risk assessment
- Early Intervention: Facilitates timely implementation of appropriate therapies
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help families interpret test results effectively:
- Positive Result: Indicates presence of pathogenic PLCB1 mutation, confirming diagnosis of Early Infantile Epileptic Encephalopathy Type 12
- Negative Result: Suggests absence of detectable PLCB1 mutations, though other genetic causes may be considered
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines inheritance patterns and recurrence risks for future pregnancies
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| PLCB1 Gene Early Infantile Epileptic Encephalopathy Type 12 NGS Genetic DNA Test – Discount Price | $500 |
| PLCB1 Gene Early Infantile Epileptic Encephalopathy Type 12 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Accessibility
We provide comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent quality and reliable results regardless of location.
Take Action Today
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 counselors and neurologists are ready to support your family through this diagnostic journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or learn more about the PLCB1 Gene Early Infantile Epileptic Encephalopathy Type 12 NGS Genetic DNA Test. Take the first step toward clarity and comprehensive care for your child’s neurological health.
