PEX1 Gene Zellweger Syndrome NGS Genetic DNA Test
Comprehensive Genetic Screening for Neurological Disorders
The PEX1 Gene Zellweger Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neurological conditions. This advanced testing method utilizes next-generation sequencing technology to analyze the PEX1 gene, which plays a critical role in peroxisome function and cellular metabolism. Peroxisomes are essential organelles responsible for various metabolic processes, including fatty acid oxidation and bile acid synthesis.
What Does This Test Measure?
This sophisticated genetic test specifically targets and sequences the PEX1 gene to identify mutations associated with Zellweger syndrome spectrum disorders. The test detects:
- Point mutations and single nucleotide variants in the PEX1 gene
- Insertions and deletions that may disrupt gene function
- Copy number variations affecting peroxisome biogenesis
- Pathogenic variants linked to peroxisomal assembly disorders
Who Should Consider This Test?
This genetic screening is recommended for individuals presenting with:
- Neurological symptoms including hypotonia (low muscle tone) and seizures
- Developmental delays and failure to thrive in infancy
- Characteristic facial features associated with Zellweger syndrome
- Hearing or vision abnormalities in early childhood
- Liver dysfunction or abnormal liver enzyme levels
- Family history of peroxisomal disorders or consanguineous parents
- Suspected Zellweger syndrome spectrum disorders based on clinical presentation
Key Benefits of Genetic Testing
Undergoing the PEX1 Gene Zellweger Syndrome NGS Genetic DNA Test provides numerous advantages:
- Early Diagnosis: Enables prompt identification of peroxisomal disorders for timely intervention
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides development of targeted treatment and management strategies
- Prognostic Insights: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic neurological conditions
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Indicates the presence of pathogenic PEX1 gene mutations, confirming Zellweger syndrome spectrum disorder diagnosis
- Negative Result: Suggests no detected mutations in the PEX1 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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 facilities are equipped with state-of-the-art genetic testing technology and staffed by experienced neurological genetics specialists.
Take Control of Your Genetic Health
Early detection through genetic testing can significantly impact treatment outcomes and quality of life. Our comprehensive approach includes pre-test genetic counseling to discuss family history, testing implications, and potential outcomes. The testing process requires a simple blood sample or extracted DNA, with results typically available within 3-4 weeks.
Ready to schedule your genetic counseling session? Contact our specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and making informed decisions about your care.
