FLNA Gene Heterotopia Periventricular ED Variant NGS Genetic DNA Test
Comprehensive Introduction to FLNA Gene Testing
The FLNA Gene Heterotopia Periventricular ED Variant NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the FLNA (Filamin A) gene, which plays a critical role in neuronal migration during brain development. This specialized genetic test utilizes next-generation sequencing technology to provide comprehensive analysis of the FLNA gene, offering crucial insights for patients and families affected by neurological conditions.
Periventricular heterotopia is a rare neurological disorder characterized by the presence of nodules of neurons along the lateral ventricles of the brain, resulting from improper neuronal migration during fetal development. The FLNA gene provides instructions for producing filamin A, a protein essential for cell movement and structure. When mutations occur in this gene, it disrupts normal brain development, leading to the characteristic features of periventricular heterotopia.
What This Test Measures and Detects
Our advanced NGS genetic testing specifically targets:
- Comprehensive sequencing of the FLNA gene to identify pathogenic variants
- Detection of point mutations, insertions, and deletions affecting gene function
- Analysis of specific ED (ectodermal dysplasia) variants associated with neurological manifestations
- Identification of both inherited and de novo mutations
- Assessment of variant pathogenicity and clinical significance
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is particularly recommended for individuals presenting with:
- Recurrent seizures or epilepsy of unknown origin
- Developmental delays or intellectual disability
- Family history of periventricular heterotopia or related neurological conditions
- Unexplained neurological symptoms with normal brain imaging
- Women with epilepsy and family history of neurological disorders
- Patients with suspected X-linked inheritance patterns
- Individuals with connective tissue abnormalities and neurological symptoms
Significant Benefits of FLNA Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out FLNA-related periventricular heterotopia
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for reproductive decision-making
- Prognostic Insights: Helps predict disease progression and potential complications
- Genetic Counseling: Facilitates informed discussions about inheritance patterns
- Early Intervention: Allows for timely management of associated conditions
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
Positive Result Interpretation
A positive result indicates the presence of a pathogenic FLNA gene variant associated with periventricular heterotopia. This confirmation enables:
- Implementation of appropriate seizure management strategies
- Regular neurological monitoring and follow-up care
- Family member testing and genetic counseling
- Development of personalized healthcare plans
Negative Result Interpretation
A negative result suggests that FLNA gene mutations are not the cause of the clinical presentation, directing further diagnostic evaluation toward other potential genetic or neurological conditions.
Variant of Uncertain Significance
In some cases, variants of uncertain significance may be identified, requiring additional family studies and clinical correlation for proper interpretation.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | FLNA Gene Heterotopia Periventricular ED Variant 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 testing and comprehensive results, we require:
- Complete clinical history of the patient
- Genetic counseling session to document family pedigree
- Detailed information about affected family members
- Relevant neurological and imaging reports
Nationwide Testing Availability
We proudly offer our specialized FLNA genetic testing services across the United States, with convenient locations in major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and neurological specialists ensures comprehensive care and support throughout your testing journey.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our FLNA Gene Heterotopia Periventricular ED Variant NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive nationwide coverage, accessing advanced genetic testing has never been more convenient.
Ready to begin your genetic testing journey? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online to schedule your FLNA genetic test and take the first step toward genetic clarity and personalized neurological care.
