PEX2 Gene Zellweger Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The PEX2 Gene Zellweger Syndrome NGS Genetic DNA Test represents a breakthrough in diagnostic precision for rare neurological conditions. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the PEX2 gene, which plays a critical role in peroxisome function and cellular metabolism. Early detection through this test can significantly impact treatment outcomes and family planning decisions.
What Does This Test Measure?
This specialized genetic test specifically targets the PEX2 gene, analyzing its complete coding sequence for pathogenic variants that cause Zellweger syndrome spectrum disorders. The test detects:
- Point mutations and small insertions/deletions in the PEX2 gene
- Variants associated with impaired peroxisomal assembly
- Genetic markers for neurological development abnormalities
- Inheritance patterns for family risk assessment
Who Should Consider This Test?
This genetic test is recommended for individuals displaying symptoms suggestive of peroxisomal disorders, including:
- Infants with severe hypotonia (low muscle tone) and feeding difficulties
- Children experiencing developmental delays and failure to thrive
- Patients with vision problems, hearing loss, or seizures
- Individuals with liver dysfunction or abnormal facial features
- Families with history of Zellweger syndrome or related disorders
- Couples planning pregnancy with known family history of neurological conditions
Key Benefits of PEX2 Genetic Testing
Choosing this comprehensive genetic analysis provides numerous advantages:
- Early Diagnosis: Enables prompt intervention and management strategies
- Accurate Prognosis: Provides clear understanding of disease progression
- Family Planning: Offers crucial information for reproductive decisions
- Personalized Care: Guides targeted treatment approaches
- Peace of Mind: Reduces uncertainty through definitive genetic answers
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Indicates presence of PEX2 gene mutation; requires consultation with neurologist and genetic counselor
- Negative Result: No detected mutations; reduces likelihood of Zellweger syndrome
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PEX2 Gene Zellweger Syndrome NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
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 state-of-the-art facilities ensure consistent quality and reliable results nationwide.
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and next steps
Sample Collection and Turnaround
We accept multiple sample types for your convenience:
- Blood samples collected by certified phlebotomists
- Extracted DNA from previous genetic testing
- One drop of blood on FTA card for easy transport
Results are typically available within 3 to 4 weeks from sample receipt.
Take Control of Your Genetic Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our expert team of genetic counselors and neurologists is ready to help you understand your genetic risks and make informed healthcare decisions. Schedule your PEX2 Gene Zellweger Syndrome NGS Genetic DNA Test now and take the first step toward clarity and proactive health management.
Call or WhatsApp us today at +1(267) 388-9828 to book your appointment or discuss your testing options with our genetic specialists.
