GRIN2B Gene Early Infantile Epileptic Encephalopathy Type 27 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The GRIN2B Gene Early Infantile Epileptic Encephalopathy Type 27 NGS Genetic DNA Test represents a breakthrough in pediatric neurological diagnostics. This advanced genetic screening utilizes next-generation sequencing (NGS) technology to identify mutations in the GRIN2B gene, which plays a critical role in brain development and neurological function. Early infantile epileptic encephalopathy type 27 is a severe condition characterized by treatment-resistant seizures, developmental delays, and neurological regression that typically manifests within the first months of life.
What This Test Measures and Detects
This specialized genetic test specifically targets the GRIN2B gene, which encodes the GluN2B subunit of NMDA receptors in the brain. These receptors are essential for synaptic plasticity, learning, memory formation, and proper neurological development. The test identifies:
- Point mutations and missense variants in the GRIN2B gene
- Frameshift mutations affecting protein structure
- Nonsense mutations leading to premature stop codons
- Copy number variations and structural alterations
- De novo mutations not present in parental DNA
Who Should Consider This Test
This genetic test is recommended for infants and children presenting with specific neurological symptoms, including:
- Early-onset seizures within the first 6 months of life
- Developmental regression or stagnation
- Hypotonia (reduced muscle tone) or hypertonia
- Abnormal EEG patterns consistent with epileptic encephalopathy
- Family history of similar neurological conditions
- Unexplained developmental delays with seizure activity
- Movement disorders or ataxia
- Autism spectrum features with seizure history
Benefits of GRIN2B Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out GRIN2B-related disorders with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on specific mutation types
- Prognostic Information: Helps predict disease progression and potential outcomes
- Family Planning: Provides crucial information for genetic counseling and future family planning
- Clinical Trial Eligibility: May qualify patients for specialized treatment trials
- Early Intervention: Facilitates timely implementation of supportive therapies
Understanding Your Test Results
Your GRIN2B genetic test results will be thoroughly explained by our genetic counseling team. Possible outcomes include:
- Positive Result: Identifies a pathogenic mutation in the GRIN2B gene, confirming the diagnosis of early infantile epileptic encephalopathy type 27
- Negative Result: No disease-causing mutations detected in the GRIN2B gene, suggesting other potential causes for symptoms
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact, requiring further evaluation
- Carrier Status: Determines if parents carry the mutation, important for genetic counseling
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | GRIN2B Gene Early Infantile Epileptic Encephalopathy Type 27 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified collection centers ensures accessible testing for families nationwide.
Pre-Test Requirements
To ensure the most accurate results and comprehensive analysis, we recommend:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of neurological symptoms and developmental milestones
- Previous diagnostic test results and imaging studies
Take the Next Step Toward Diagnosis
If your child is experiencing symptoms consistent with early infantile epileptic encephalopathy or if you have concerns about neurological development, our GRIN2B genetic test can provide the answers you need. Early genetic diagnosis is crucial for implementing appropriate interventions and improving long-term outcomes.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the GRIN2B Gene Early Infantile Epileptic Encephalopathy Type 27 NGS Genetic DNA Test. Our team of genetic specialists is ready to guide you through the testing process and help you understand the results for better healthcare decisions.
