NECAP1 Gene Early Infantile Epileptic Encephalopathy Type 21 NGS Genetic DNA Test
Understanding NECAP1 Gene-Related Epileptic Encephalopathy
Early infantile epileptic encephalopathy type 21 represents a severe neurological condition characterized by recurrent seizures that begin in the first months of life. This rare genetic disorder is caused by mutations in the NECAP1 gene, which plays a critical role in clathrin-mediated endocytosis—a fundamental cellular process essential for proper brain development and neuronal communication. The NECAP1 Gene NGS Genetic DNA Test provides comprehensive analysis to identify these specific genetic mutations, offering families and healthcare providers definitive diagnostic information for this challenging condition.
What This Advanced Genetic Test Detects
Our state-of-the-art next-generation sequencing (NGS) technology thoroughly examines the NECAP1 gene to identify:
- Pathogenic variants and mutations in the NECAP1 gene coding regions
- Single nucleotide polymorphisms associated with epileptic encephalopathy
- Insertions, deletions, and copy number variations affecting gene function
- Autosomal recessive inheritance patterns characteristic of this condition
- Specific genetic markers linked to early-onset seizure disorders
Clinical Indications and Who Should Consider Testing
This specialized genetic test is recommended for infants and children presenting with:
- Early-onset seizures within the first 6 months of life
- Developmental regression or stagnation following seizure onset
- Abnormal EEG patterns consistent with epileptic encephalopathy
- Family history of similar neurological conditions
- Unexplained developmental delays with seizure activity
- Resistance to conventional anti-epileptic medications
Comprehensive Benefits of NECAP1 Genetic Testing
Undergoing this advanced genetic analysis provides numerous advantages for patients and families:
- Definitive Diagnosis: Confirms or rules out NECAP1-related epileptic encephalopathy
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential outcomes
- Research Contribution: Advances understanding of rare genetic epilepsies
- Early Intervention: Facilitates timely implementation of appropriate management strategies
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates the presence of pathogenic NECAP1 mutations, confirming diagnosis of early infantile epileptic encephalopathy type 21
- Negative Result: Suggests that NECAP1 mutations are not the cause of symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes requiring additional clinical correlation
- Carrier Status: Determines if parents carry recessive mutations for family planning purposes
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | NECAP1 Gene Early Infantile Epileptic Encephalopathy Type 21 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 and Preparation
To ensure accurate results, please provide:
- Complete clinical history of the patient
- Genetic counseling session to document family pedigree
- Information about affected family members with similar symptoms
- Previous neurological evaluations and test results
Nationwide Accessibility Across the United States
We proudly serve patients throughout 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. Our network of certified genetic counselors and neurological specialists ensures comprehensive care regardless of your location.
Take the Next Step Toward Answers
If your infant is experiencing unexplained seizures or developmental concerns, the NECAP1 Gene Test could provide the clarity needed for effective management. Our team of genetic specialists and neurologists is ready to guide you through the testing process and help interpret your results within the context of your child’s specific clinical presentation.
Ready to schedule your genetic consultation? Call or WhatsApp us today at +1(267) 388-9828 to book your NECAP1 Gene Test and take the first step toward understanding your child’s neurological health.
