CDKL5 Gene Angelman-like Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The CDKL5 Gene Angelman-like Syndrome NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations in the CDKL5 gene that are responsible for severe developmental and epileptic encephalopathies. This advanced genetic analysis provides critical insights for families and healthcare providers dealing with complex neurological conditions that mimic Angelman syndrome.
What This Test Measures and Detects
This comprehensive NGS (Next-Generation Sequencing) test specifically targets the CDKL5 gene, which plays a crucial role in brain development and function. The test identifies:
- Pathogenic variants and mutations in the CDKL5 gene
- Deletions, duplications, and point mutations affecting gene function
- Genetic alterations associated with CDKL5 deficiency disorder
- Variants that cause Angelman-like syndrome symptoms
- Inheritance patterns and recurrence risks
Who Should Consider This Test
This genetic test is recommended for individuals presenting with the following symptoms and clinical indications:
- Infants and children with unexplained developmental delays
- Patients experiencing early-onset seizures or epilepsy
- Individuals with movement disorders and motor coordination issues
- Children showing features resembling Angelman syndrome
- Patients with intellectual disability and communication challenges
- Individuals with abnormal EEG patterns and neurological symptoms
- Families with history of similar neurological conditions
Key Benefits of CDKL5 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Provides definitive identification of CDKL5-related disorders
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Offers recurrence risk information for future pregnancies
- Early Intervention: Facilitates timely implementation of appropriate therapies
- Clinical Management: Guides medication choices and seizure management strategies
- Prognostic Information: Helps understand disease progression and expected outcomes
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results effectively:
- Positive Result: Indicates the presence of a pathogenic CDKL5 mutation, confirming the diagnosis and guiding specific management strategies
- Negative Result: Suggests that CDKL5 mutations are not the cause of symptoms, directing further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires additional investigation
- Carrier Status: Provides information about inheritance patterns and family risk assessment
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CDKL5 Gene Angelman-like Syndrome 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
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process for genetic testing
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for patients nationwide.
Take the Next Step Toward Answers
If you or your loved one is experiencing symptoms suggestive of CDKL5-related disorders, don’t wait to get the answers you need. Our comprehensive genetic testing provides the clarity required for effective medical management and treatment planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your CDKL5 Gene Angelman-like Syndrome NGS Genetic DNA Test. Our genetic specialists are ready to assist you with testing coordination, insurance questions, and result interpretation.
Early genetic diagnosis can make a significant difference in managing neurological conditions and improving quality of life. Contact us now to begin your journey toward definitive answers and personalized care.
