PEX16 Gene Zellweger Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurological Disorders
The PEX16 Gene Zellweger Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare inherited neurological conditions. This advanced genetic screening utilizes state-of-the-art Next-Generation Sequencing technology to identify mutations in the PEX16 gene, which plays a critical role in peroxisome biogenesis and function. Peroxisomes are essential cellular organelles responsible for numerous metabolic processes, including fatty acid oxidation and bile acid synthesis.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the PEX16 gene located on chromosome 11, identifying pathogenic variants that disrupt normal peroxisome assembly and function. The test detects:
- Point mutations, insertions, and deletions in the PEX16 gene
- Autosomal recessive inheritance patterns
- Variants associated with Zellweger syndrome spectrum disorders
- Mutations affecting peroxisomal membrane protein assembly
- Genetic markers for neonatal adrenoleukodystrophy and infantile Refsum disease
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with symptoms suggestive of peroxisomal biogenesis disorders, including:
- Newborns with severe hypotonia (floppy baby syndrome)
- Infants experiencing developmental delays and failure to thrive
- Children with distinctive facial features (high forehead, large fontanelles)
- Patients with vision abnormalities (cataracts, retinal degeneration)
- Individuals with hearing impairment or sensorineural hearing loss
- Those exhibiting liver dysfunction or hepatomegaly
- Patients with seizures or neurological deterioration
- Family members of individuals diagnosed with Zellweger syndrome
Significant Benefits of Early Genetic Detection
Undergoing the PEX16 Gene Zellweger Syndrome NGS Genetic DNA Test provides numerous advantages:
- Early Intervention Opportunities: Enables prompt implementation of supportive care and management strategies
- Accurate Diagnosis: Provides definitive confirmation of suspected peroxisomal disorders
- Family Planning Guidance: Offers crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps healthcare providers understand disease progression and expected outcomes
- Research Contribution: Advances scientific understanding of rare genetic conditions
- Peace of Mind: Reduces diagnostic uncertainty for concerned families
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results with expert guidance:
- Positive Result: Indicates the presence of pathogenic PEX16 mutations, confirming diagnosis of Zellweger syndrome spectrum disorder
- Negative Result: Suggests absence of detectable PEX16 mutations, though does not completely rule out other peroxisomal disorders
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Detects individuals with one mutated copy who are typically asymptomatic but can pass the condition to offspring
Test Specifications and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | PEX16 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 |
| Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure accurate results and comprehensive care, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session with our certified genetic counselors
- Development of detailed pedigree chart documenting family members affected by PEX16-related disorders
- Informed consent for genetic testing and result disclosure
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and healthcare professionals ensures consistent, high-quality care regardless of location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about rare genetic conditions affect your family’s future. Our PEX16 Gene Zellweger Syndrome NGS Genetic DNA Test provides the definitive answers you need for informed healthcare decisions. Contact our genetic specialists today to schedule your comprehensive evaluation and begin your journey toward genetic understanding.
Call or WhatsApp our genetic counseling team at +1(267) 388-9828 to book your appointment or discuss your testing options with our expert genetic counselors.
