CDKL5 Gene Early Infantile Epileptic Encephalopathy Type 2 NGS Genetic DNA Test
Understanding CDKL5-Related Epileptic Encephalopathy
CDKL5 deficiency disorder is a rare genetic condition characterized by early-onset seizures and severe neurodevelopmental impairment. The CDKL5 gene provides instructions for making a protein essential for normal brain development and function. When mutations occur in this gene, they disrupt critical neurological processes, leading to the development of early infantile epileptic encephalopathy type 2. This condition typically manifests within the first few months of life and represents one of the most challenging pediatric neurological disorders.
What This Advanced Genetic Test Detects
Our comprehensive NGS (Next-Generation Sequencing) genetic test specifically targets the CDKL5 gene to identify pathogenic variants responsible for epileptic encephalopathy. The test examines:
- Complete CDKL5 gene sequencing for point mutations
- Detection of small insertions and deletions
- Identification of copy number variations
- Assessment of splice site mutations
- Comprehensive variant analysis and interpretation
Who Should Consider CDKL5 Genetic Testing?
This specialized genetic test is recommended for infants and children presenting with:
- Early-onset seizures beginning in the first months of life
- Developmental delays and regression
- Movement disorders including hand stereotypies
- Visual impairment and cortical visual impairment
- Sleep disturbances and gastrointestinal issues
- Features of Rett syndrome-like presentation
- Family history of similar neurological conditions
Key Benefits of Early Genetic Diagnosis
Obtaining a precise genetic diagnosis through CDKL5 testing provides numerous advantages:
- Accurate Diagnosis: Confirms the specific genetic cause of symptoms
- Personalized Treatment: Enables targeted therapeutic approaches
- Prognostic Information: Helps predict disease progression and outcomes
- Family Planning: Provides recurrence risk information for future pregnancies
- Early Intervention: Facilitates timely access to specialized care and therapies
- Research Opportunities: Connects families with clinical trials and support networks
Understanding Your Test Results
Our comprehensive genetic counseling service helps families interpret test results:
- Positive Result: Confirms CDKL5 mutation and establishes diagnosis
- Negative Result: May suggest alternative genetic causes requiring further investigation
- Variant of Uncertain Significance: Requires additional family studies and follow-up
- Carrier Status: Important for family members and reproductive planning
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CDKL5 Gene Early Infantile Epileptic Encephalopathy Type 2 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 |
| Specialty | Neurology |
| Department | Genetics |
| Method | NGS Technology |
Pre-Test Requirements
Before scheduling your CDKL5 genetic test, please ensure:
- Complete clinical history of the patient
- Genetic counseling session to create family pedigree chart
- Documentation of affected family members with similar symptoms
- Neurological evaluation and seizure documentation
Nationwide Testing Availability
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 network of certified genetic counselors and neurologists ensures accessible, high-quality care for families nationwide.
Take the Next Step Toward Answers
If your child is experiencing unexplained seizures or developmental concerns, don’t wait to seek answers. Early genetic diagnosis can make a significant difference in treatment outcomes and quality of life. Our team of genetic specialists is ready to guide you through the testing process and provide the clarity your family deserves.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your CDKL5 genetic test consultation and take the first step toward understanding your child’s neurological condition.
