TUBA1A Gene Lissencephaly Type 3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Brain Malformation Disorders
The TUBA1A Gene Lissencephaly Type 3 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations responsible for lissencephaly type 3. This advanced testing methodology provides critical insights for families and healthcare providers managing complex brain development disorders.
What is TUBA1A Gene Lissencephaly Type 3?
Lissencephaly type 3 is a rare neurological condition characterized by abnormal brain development where the cerebral cortex appears smooth rather than having the typical folded appearance. The TUBA1A gene plays a crucial role in neuronal migration during fetal brain development, and mutations in this gene disrupt normal cortical formation, leading to severe neurological impairments.
What the Test Measures and Detects
Our advanced NGS (Next Generation Sequencing) technology comprehensively analyzes the TUBA1A gene to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Missense mutations affecting protein function
- Pathogenic variants associated with lissencephaly spectrum disorders
- Novel genetic variations with clinical significance
The test provides high-resolution genetic data that enables precise diagnosis and classification of lissencephaly type 3, distinguishing it from other forms of cortical malformations.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Infants with developmental delays and neurological abnormalities
- Children exhibiting seizure disorders of unknown origin
- Patients with intellectual disability and motor impairment
- Individuals with characteristic facial features including microcephaly
- Family history of lissencephaly or related brain malformations
- Unexplained cerebral palsy-like symptoms
- Abnormal brain imaging showing smooth brain surface
- Feeding difficulties and growth retardation in infancy
Benefits of Taking the TUBA1A Genetic Test
Comprehensive Diagnostic Advantages
- Definitive Diagnosis: Provides conclusive genetic evidence for lissencephaly type 3
- Treatment Guidance: Informs appropriate medical management and therapeutic interventions
- Prognostic Information: Helps predict disease progression and potential complications
- Family Planning: Enables genetic counseling for future pregnancies
- Early Intervention: Facilitates timely implementation of supportive therapies
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Interpretation and Clinical Implications
Our comprehensive genetic report includes detailed analysis and interpretation:
- Positive Result: Identification of pathogenic TUBA1A mutation confirms lissencephaly type 3 diagnosis
- Negative Result: No mutation detected suggests alternative diagnoses should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for family members and reproductive planning
All results are accompanied by detailed genetic counseling recommendations and clinical management guidance from our expert team of genetic specialists.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history of the patient
- Genetic counseling session to create family pedigree chart
- Documentation of affected family members with TUBA1A-related conditions
- Review of previous neurological evaluations and imaging studies
Nationwide Testing Availability
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 families throughout the country.
Take the Next Step Toward Diagnosis
Don’t let uncertainty about neurological symptoms delay proper diagnosis and treatment. Our TUBA1A Gene Lissencephaly Type 3 NGS Genetic DNA Test provides the clarity needed for effective medical management and family planning decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your neurological health journey.
Our team of genetic counselors and pediatric neurologists are ready to provide comprehensive support throughout the testing process, from initial consultation to result interpretation and long-term management planning.
