PAFAH1B1 Gene Lissencephaly Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Brain Development Disorders
The PAFAH1B1 Gene Lissencephaly Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with lissencephaly type 1, a rare neurological condition characterized by abnormal brain development. This advanced genetic test utilizes next-generation sequencing (NGS) technology to provide comprehensive analysis of the PAFAH1B1 gene, which plays a critical role in neuronal migration during fetal brain development.
What Does This Test Detect?
This specialized genetic test specifically targets and analyzes the PAFAH1B1 gene (also known as LIS1 gene) for pathogenic variants that cause lissencephaly type 1. The test identifies:
- Point mutations, deletions, and duplications in the PAFAH1B1 gene
- Pathogenic variants affecting neuronal migration
- Genetic abnormalities responsible for smooth brain surface development
- Inherited or de novo mutations causing Miller-Dieker syndrome
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Infants and children with developmental delays and intellectual disability
- Patients experiencing early-onset seizures or epilepsy
- Individuals with abnormal brain MRI findings showing smooth brain surface
- Children with feeding difficulties and poor muscle tone
- Patients with family history of lissencephaly or related neurological disorders
- Prenatal cases with abnormal ultrasound findings suggesting brain malformations
Clinical Benefits of PAFAH1B1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out PAFAH1B1-related lissencephaly with high precision
- Early Intervention: Enables timely medical management and therapeutic interventions
- Genetic Counseling: Provides families with recurrence risk information and family planning guidance
- Treatment Planning: Helps neurologists and pediatricians develop targeted care strategies
- Prognostic Information: Offers insights into disease progression and expected outcomes
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our board-certified genetic specialists:
- Positive Result: Indicates the presence of a pathogenic variant in the PAFAH1B1 gene, confirming lissencephaly type 1 diagnosis
- Negative Result: Suggests no detectable mutation in the PAFAH1B1 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if individuals carry the mutation without showing symptoms
All results include comprehensive genetic counseling to help you understand the implications and next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | PAFAH1B1 Gene Lissencephaly 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 |
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Genetic counseling session scheduled to create a family pedigree chart
- Previous neurological evaluations and brain imaging reports
- Insurance information and physician referral if required
Nationwide Testing Availability
We have convenient testing locations across the United States, including major cities such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of location.
Take the Next Step Toward Diagnosis
If you suspect lissencephaly type 1 or have concerns about brain development disorders, our PAFAH1B1 genetic test provides the answers you need. Early genetic diagnosis can significantly impact treatment outcomes and family planning decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the PAFAH1B1 Gene Lissencephaly Type 1 NGS Genetic DNA Test. Our genetic specialists are ready to guide you through the testing process and provide the comprehensive care your family deserves.
