PEX26 Gene Zellweger Syndrome NGS Genetic DNA Test
Comprehensive Genetic Screening for Neurological Disorders
The PEX26 Gene Zellweger Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying peroxisomal biogenesis disorders, specifically targeting mutations in the PEX26 gene that cause Zellweger syndrome spectrum disorders. This comprehensive genetic analysis utilizes next-generation sequencing technology to provide accurate and reliable results for patients and families affected by these rare neurological conditions.
What Does This Test Measure?
This advanced genetic test specifically detects mutations and variations in the PEX26 gene, which plays a critical role in peroxisome assembly and function. The test identifies:
- Point mutations in the PEX26 gene coding regions
- Small insertions and deletions affecting gene function
- Copy number variations impacting peroxisomal biogenesis
- Pathogenic variants associated with Zellweger syndrome spectrum
Who Should Consider This Test?
This genetic screening is recommended for individuals presenting with 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 abnormalities including retinal degeneration
- Individuals with hearing impairments and sensorineural hearing loss
- Those showing liver dysfunction and abnormal liver enzyme levels
- Patients with distinctive facial features associated with Zellweger syndrome
- Family members of individuals diagnosed with peroxisomal disorders
Key Benefits of PEX26 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out Zellweger syndrome spectrum disorders
- Family Planning: Enables informed reproductive decisions for at-risk families
- Early Intervention: Facilitates timely management and supportive care strategies
- Genetic Counseling: Provides basis for comprehensive genetic counseling sessions
- Research Contribution: Contributes to ongoing research in peroxisomal disorders
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your PEX26 gene analysis results:
- Positive Result: Indicates the presence of pathogenic mutations associated with Zellweger syndrome
- Negative Result: Suggests no detectable mutations in the PEX26 gene analyzed
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact
- Carrier Status: Determines if an individual carries one copy of a mutated gene
All results are accompanied by comprehensive genetic counseling to ensure proper understanding and next steps.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have established testing facilities across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and neurologists ensures comprehensive care regardless of your location.
Pre-Test Requirements
Before undergoing the PEX26 Gene Zellweger Syndrome NGS Genetic DNA Test, patients must complete:
- Comprehensive clinical history documentation
- Genetic counseling session with certified genetic counselor
- Development of detailed pedigree chart documenting family history
- Discussion of test implications and potential outcomes
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 wait to get the answers you need about potential neurological disorders. Our team of genetic specialists is ready to provide comprehensive testing and counseling services. Contact us now to schedule your PEX26 Gene Zellweger Syndrome NGS Genetic DNA Test and take the first step toward understanding your genetic health.
Call or WhatsApp us today at +1(267) 388-9828 to book your appointment!
