PEX12 Gene Zellweger Syndrome NGS Genetic DNA Test
Comprehensive Genetic Screening for Neurological Disorders
The PEX12 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 (NGS) technology to identify mutations in the PEX12 gene, which plays a critical role in peroxisome biogenesis and function. Peroxisomes are essential cellular organelles responsible for various metabolic processes, and their dysfunction can lead to severe multisystem disorders affecting neurological development, liver function, and overall growth.
What Does the PEX12 Gene Test Measure?
This comprehensive genetic analysis specifically targets the PEX12 gene located on chromosome 17, examining it for pathogenic variants that disrupt normal peroxisome assembly. The test detects:
- Point mutations, insertions, and deletions in the PEX12 coding regions
- Copy number variations affecting gene function
- Autosomal recessive inheritance patterns
- Variants associated with Zellweger syndrome spectrum disorders
- Mutations impacting peroxisomal matrix protein import
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with symptoms suggestive of peroxisomal biogenesis disorders, including:
- Neonates with severe hypotonia (floppy baby syndrome)
- Infants experiencing recurrent seizures or epilepsy
- Children with developmental delays and failure to thrive
- Patients with vision abnormalities including retinal degeneration
- Individuals with hearing loss or auditory processing issues
- Those showing liver dysfunction or hepatomegaly
- Patients with distinctive facial features associated with Zellweger syndrome
- Family history of peroxisomal disorders or unexplained infant deaths
Benefits of PEX12 Genetic Testing
Undergoing the PEX12 Gene Zellweger Syndrome NGS Genetic DNA Test provides numerous advantages for patients and families:
- Early Diagnosis: Enables prompt intervention and management strategies
- Accurate Prognosis: Helps predict disease progression and potential complications
- Family Planning: Provides crucial information for reproductive decision-making
- Personalized Care: Guides targeted therapeutic approaches and supportive care
- Genetic Counseling: Facilitates informed discussions about inheritance risks
- Research Contribution: Advances understanding of rare neurological conditions
Understanding Your Test Results
Interpretation Guidance
Your genetic test results will be carefully analyzed and interpreted by our board-certified genetic specialists:
- Positive Result: Indicates the presence of pathogenic PEX12 mutations, confirming Zellweger syndrome spectrum disorder diagnosis
- Negative Result: Suggests no detectable mutations in the PEX12 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | PEX12 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) Technology |
Pre-Test Requirements
Before undergoing the PEX12 Gene Zellweger Syndrome NGS Genetic DNA Test, patients should complete:
- Comprehensive clinical history documentation
- Genetic counseling session with certified genetic counselor
- Family pedigree chart development identifying affected relatives
- Discussion of testing implications and potential outcomes
Nationwide Accessibility
GGC DNA maintains testing facilities across the United States, ensuring convenient access to advanced genetic diagnostics. Our network includes locations in:
- New York City and surrounding metropolitan areas
- Los Angeles and Southern California regions
- Chicago and Midwest territories
- Houston and Texas medical centers
- Phoenix and Southwest facilities
- All major urban centers nationwide
Take Action for Your Neurological Health
Don’t wait to get answers about potential genetic neurological conditions. Our expert team of neurologists and genetic specialists is ready to provide comprehensive care and support throughout your testing journey. Early detection through the PEX12 Gene Zellweger Syndrome NGS Genetic DNA Test can make a significant difference in management outcomes and quality of life.
Schedule your genetic consultation today by calling our dedicated healthcare line at +1(267) 388-9828 or book your appointment online through our secure patient portal. Take the first step toward understanding your genetic health and securing informed medical decisions for you and your family.
