DCX Gene Lissencephaly X-Linked Type 1 NGS Genetic DNA Test
Understanding DCX Gene Lissencephaly and Its Clinical Significance
DCX Gene Lissencephaly X-Linked Type 1 represents a critical neurological disorder characterized by abnormal brain development during fetal growth. The condition, also known as X-linked lissencephaly, results from mutations in the DCX (doublecortin) gene located on the X chromosome. This gene plays a fundamental role in neuronal migration and cortical development, making its proper function essential for normal brain formation.
Lissencephaly, meaning “smooth brain,” describes the characteristic appearance of the cerebral cortex that lacks the normal convolutions and folds. The DCX gene specifically encodes a protein crucial for microtubule stabilization during neuronal migration. When mutations occur, neurons fail to reach their proper positions in the cerebral cortex, leading to the smooth brain surface and associated neurological complications.
What This Advanced Genetic Test Detects
Our DCX Gene Lissencephaly X-Linked Type 1 NGS Genetic DNA Test employs state-of-the-art Next Generation Sequencing technology to comprehensively analyze the DCX gene for pathogenic variants. The test specifically identifies:
- Point mutations and small insertions/deletions in the DCX gene
- Missense, nonsense, and frameshift mutations affecting protein function
- Splice site variants that disrupt normal gene expression
- Copy number variations and larger genomic rearrangements
- X-linked inheritance pattern confirmation
The test provides 99.9% accuracy in detecting mutations across all coding regions and flanking intronic sequences of the DCX gene, ensuring comprehensive coverage for diagnostic certainty.
Who Should Consider DCX Gene Testing
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with the following clinical features:
- Infants and children with severe developmental delays
- Patients exhibiting characteristic smooth brain appearance on neuroimaging
- Individuals with treatment-resistant epilepsy or infantile spasms
- Children demonstrating significant intellectual disability
- Patients with feeding difficulties and failure to thrive
- Individuals with abnormal muscle tone (hypotonia or hypertonia)
- Family history of X-linked neurological disorders
- Mothers carrying potential X-linked genetic mutations
At-Risk Populations
Families with a history of unexplained neurological disorders, particularly those following X-linked inheritance patterns, should strongly consider genetic testing. Early diagnosis enables proactive management and informed family planning decisions.
Comprehensive Benefits of DCX Gene Testing
Undergoing the DCX Gene Lissencephaly X-Linked Type 1 NGS Genetic DNA Test provides numerous clinical advantages:
- Definitive Diagnosis: Provides conclusive genetic confirmation of lissencephaly type 1
- Early Intervention: Enables timely implementation of therapeutic strategies
- Genetic Counseling: Facilitates informed reproductive decision-making
- Family Risk Assessment: Identifies carrier status in female relatives
- Treatment Guidance: Informs targeted seizure management approaches
- Prognostic Information: Helps establish realistic developmental expectations
- Research Contribution: Advances understanding of rare neurological conditions
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report provides clear interpretation of your DCX gene analysis:
- Positive Result: Indicates presence of pathogenic DCX mutation confirming diagnosis
- Negative Result: Suggests absence of detectable DCX mutations
- Variant of Uncertain Significance: Requires additional family studies for clarification
- Carrier Status: Identifies females with mutation who may pass condition to sons
All results are accompanied by detailed genetic counseling to ensure complete understanding and appropriate next steps. Our team provides personalized guidance based on your specific genetic findings and clinical context.
Clinical Implications
Positive results typically correlate with more severe neurological manifestations in males, while female carriers may exhibit milder symptoms or subcortical band heterotopia. Understanding these patterns helps tailor individual care plans and family counseling sessions.
Test Pricing and Service Details
| Test Component | Details |
|---|---|
| Test Name | DCX Gene Lissencephaly X-Linked Type 1 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 |
| Specialty Department | Pediatric Genetics – Dysmorphology |
Pre-Test Requirements and Genetic Counseling
Before undergoing testing, we require:
- Complete clinical history of the patient
- Genetic counseling session with our certified genetic counselors
- Development of comprehensive pedigree chart documenting family history
- Discussion of testing implications, benefits, and limitations
- Informed consent process ensuring understanding of potential outcomes
Our genetic counseling team specializes in neurological disorders and provides compassionate, comprehensive support throughout the testing process.
Nationwide Accessibility and Convenient Testing
We proudly serve patients across 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, and San Jose. Our network of certified collection facilities ensures accessible testing regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms delay proper diagnosis and care. Our DCX Gene Lissencephaly X-Linked Type 1 NGS Genetic DNA Test provides the definitive answers you need for informed medical decisions and family planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our compassionate team is ready to guide you through every step of the process, from initial consultation to result interpretation and beyond.
Early genetic diagnosis can make a significant difference in managing neurological conditions and planning appropriate interventions. Trust our expertise in pediatric genetics and dysmorphology to provide the comprehensive testing and support your family deserves.
