PEX19 Gene Zellweger Syndrome NGS Genetic DNA Test
Comprehensive Genetic Screening for Neurological Disorders
The PEX19 Gene Zellweger Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare neurological conditions. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing technology to identify mutations in the PEX19 gene, which plays a critical role in peroxisome biogenesis and cellular metabolism. Zellweger syndrome spectrum disorders are severe, progressive conditions that affect multiple organ systems, particularly the nervous system, making early and accurate diagnosis essential for proper management and family planning.
What Does This Test Measure?
This comprehensive genetic analysis specifically targets the PEX19 gene, which encodes a peroxisomal membrane protein essential for peroxisome assembly and function. The test detects:
- Point mutations, deletions, and insertions in the PEX19 gene
- Pathogenic variants associated with Zellweger syndrome spectrum disorders
- Genetic abnormalities affecting peroxisome biogenesis and function
- Inheritance patterns for family risk assessment
Who Should Consider This Test?
This genetic screening is recommended for individuals presenting with:
- Infants with severe neurological symptoms including hypotonia and seizures
- Children experiencing developmental delays and failure to thrive
- Individuals with vision problems, hearing loss, or liver dysfunction
- Patients with abnormal facial features characteristic of peroxisomal disorders
- Families with history of Zellweger syndrome or related conditions
- Couples planning pregnancy with family history of neurological disorders
Key Benefits of PEX19 Genetic Testing
- Early Diagnosis: Enables timely intervention and management strategies
- Family Planning: Provides crucial information for reproductive decisions
- Personalized Care: Guides targeted treatment approaches based on genetic findings
- Risk Assessment: Identifies carrier status in family members
- Comprehensive Analysis: Utilizes advanced NGS technology for accurate results
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and neurologists. A positive result indicates the presence of pathogenic mutations in the PEX19 gene, confirming Zellweger syndrome spectrum disorder. Negative results suggest the absence of detectable mutations in the tested gene, though additional testing may be recommended based on clinical presentation. Our team provides comprehensive genetic counseling to help you understand the implications of your results and develop appropriate management strategies.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | PEX19 Gene Zellweger Syndrome 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) |
Pre-Test Requirements
Before undergoing the PEX19 Gene Zellweger Syndrome NGS Genetic DNA Test, patients must provide:
- Complete clinical history documenting neurological symptoms and developmental concerns
- Participation in genetic counseling session to create detailed family pedigree
- Informed consent for genetic testing and result interpretation
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic testing facilities ensures accessible, reliable testing services for patients throughout the country.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and management of neurological symptoms. Our team of expert neurologists and genetic counselors is ready to assist you with comprehensive genetic testing and personalized care. Contact us today to schedule your PEX19 Gene Zellweger Syndrome NGS Genetic DNA Test and take the first step toward understanding your genetic health.
Call or WhatsApp us at +1(267) 388-9828 to book your test or schedule a genetic counseling consultation.
