VANGL1 Gene Caudal Regression Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Spinal Development Disorders
The VANGL1 Gene Caudal Regression Syndrome NGS Genetic DNA Test represents a breakthrough in prenatal and pediatric genetic diagnostics, offering precise detection of mutations associated with severe spinal cord development abnormalities. This advanced testing methodology provides families and healthcare providers with critical information for managing congenital spinal conditions and making informed medical decisions.
What is Caudal Regression Syndrome?
Caudal regression syndrome, also known as sacral agenesis, is a rare congenital disorder characterized by abnormal development of the lower (caudal) end of the spine. This condition affects the formation of the lower vertebrae, spinal cord, and corresponding nerves, leading to varying degrees of lower limb and organ system abnormalities. The VANGL1 gene plays a crucial role in the planar cell polarity pathway, which is essential for proper neural tube closure and spinal cord development during embryonic growth.
What Does This Test Detect?
Our comprehensive NGS-based genetic test specifically targets:
- Pathogenic variants in the VANGL1 gene associated with caudal regression syndrome
- Single nucleotide polymorphisms (SNPs) affecting spinal cord development
- Copy number variations impacting neural tube formation
- Inheritance patterns for genetic counseling purposes
- Risk assessment for future pregnancies
Advanced NGS Technology
Utilizing state-of-the-art Next Generation Sequencing technology, this test provides unparalleled accuracy in detecting even the most subtle genetic variations. Our laboratory employs comprehensive genomic analysis that covers the entire coding region of the VANGL1 gene, ensuring no mutation goes undetected.
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Prenatal ultrasound findings suggesting spinal abnormalities
- Family history of caudal regression syndrome or similar spinal defects
- Newborns with lower limb deformities or weakness
- Children with sacral agenesis or imperforate anus
- Individuals with urinary or bowel dysfunction of unknown origin
- Patients with lower extremity paralysis without clear traumatic cause
- Those with congenital hip dislocations or foot deformities
High-Risk Populations
Particular consideration should be given to infants born to mothers with gestational diabetes, as there is an established correlation between maternal diabetes and increased risk of caudal regression syndrome development.
Benefits of VANGL1 Genetic Testing
Comprehensive Diagnostic Advantages
- Early Intervention Planning: Enables timely medical and surgical interventions for affected infants
- Genetic Counseling: Provides families with accurate recurrence risk information
- Treatment Guidance: Informs orthopedic, urological, and neurological management strategies
- Prenatal Decision Support: Assists in pregnancy management and delivery planning
- Family Planning: Empowers informed reproductive choices for at-risk families
- Research Contribution: Advances understanding of spinal development disorders
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic VANGL1 gene mutation associated with caudal regression syndrome. This confirms the genetic diagnosis and enables targeted medical management.
- Negative Result: Suggests that no disease-causing mutations were detected in the VANGL1 gene. However, other genetic or environmental factors may still contribute to the clinical presentation.
- Variant of Uncertain Significance (VUS): Some genetic changes may have unknown clinical implications. These require careful interpretation by genetic specialists.
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but may not show symptoms.
Post-Test Genetic Counseling
All positive results include complimentary genetic counseling sessions to help families understand the implications, inheritance patterns, and management options. Our certified genetic counselors provide personalized guidance based on your specific results.
Test Details and Pricing
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | VANGL1 Gene Caudal Regression Syndrome NGS Genetic DNA Test | – |
| Discount Price | Limited Time Offer | $500 |
| Regular Price | Standard Rate | $700 |
| Turnaround Time | Results Delivery | 3-4 Weeks |
| Sample Type | Collection Methods | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Specialty | Medical Department | Pediatrics Genetics |
| Testing Method | Technology Used | NGS (Next Generation Sequencing) |
Pre-Test Requirements
Essential Preparation
To ensure accurate testing and comprehensive results, please provide:
- Complete clinical history of the patient undergoing testing
- Detailed family medical history, particularly regarding spinal or neural tube defects
- Participation in a genetic counseling session to create a comprehensive pedigree chart
- Documentation of any previous genetic testing or imaging studies
Sample Collection Options
We offer multiple convenient sample collection methods to accommodate your needs:
- Blood Draw: Performed at any of our nationwide collection centers
- Extracted DNA: Accept samples from other certified laboratories
- FTA Card: Simple finger-prick method for easy at-home collection
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including:
- New York City and surrounding tri-state area
- Los Angeles and Southern California region
- Chicago and Illinois metropolitan area
- Houston and Texas Gulf Coast
- Phoenix and Arizona valley communities
- Philadelphia and Delaware Valley
- And many additional locations nationwide
Take Control of Your Genetic Health Today
Don’t let uncertainty about spinal development conditions affect your family’s future. Our VANGL1 Gene Caudal Regression Syndrome NGS Genetic DNA Test provides the answers you need for informed medical decisions and peace of mind.
Call us now at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our compassionate genetic specialists are ready to guide you through every step of the process, from initial consultation to result interpretation and beyond.
Early detection through comprehensive genetic testing can make a significant difference in management outcomes for spinal development disorders. Take the first step toward understanding your genetic health by contacting our team today.
