PEX3 Gene Peroxisome Biogenesis Disorder Type 10A NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The PEX3 Gene Peroxisome Biogenesis Disorder Type 10A NGS Genetic DNA Test represents a significant advancement in neurological genetic diagnostics. This specialized test focuses on identifying mutations in the PEX3 gene, which plays a critical role in peroxisome biogenesis – essential cellular organelles responsible for various metabolic processes. Peroxisome biogenesis disorders are rare but serious conditions that can lead to severe neurological impairment, making early detection through genetic testing crucial for proper management and treatment planning.
What Does This Test Measure and Detect?
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the PEX3 gene for mutations associated with peroxisome biogenesis disorder type 10A. The test specifically detects:
- Point mutations and small insertions/deletions in the PEX3 gene
- Genetic variations affecting peroxisome assembly and function
- Mutations linked to Zellweger spectrum disorders
- Inherited genetic patterns associated with neurological conditions
- Carrier status for autosomal recessive disorders
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with symptoms suggestive of peroxisome biogenesis disorders, including:
- Infants and children with developmental delays and neurological abnormalities
- Patients with vision problems, hearing loss, or liver dysfunction
- Individuals with family history of Zellweger spectrum disorders
- Couples planning pregnancy with known family history of neurological genetic conditions
- Patients with unexplained hypotonia (low muscle tone) or seizures
- Children with facial dysmorphism and growth retardation
Key Benefits of PEX3 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Early Diagnosis: Enables prompt intervention and management strategies
- Family Planning: Provides crucial information for reproductive decision-making
- Personalized Treatment: Guides development of targeted therapeutic approaches
- Genetic Counseling: Offers professional guidance for understanding inheritance patterns
- Peace of Mind: Reduces uncertainty and provides clarity about genetic status
- Research Contribution: Helps advance understanding of rare neurological disorders
Understanding Your Test Results
Our expert genetic counselors will help you interpret your results with comprehensive guidance:
- Positive Result: Indicates the presence of PEX3 gene mutations associated with peroxisome biogenesis disorder
- Negative Result: Suggests no detectable mutations in the PEX3 gene analyzed
- Variant of Uncertain Significance: May require additional testing or family studies
- Carrier Status: Identifies individuals who carry one copy of a mutated gene
All results are accompanied by detailed explanations and recommendations for next steps, including potential treatment options, monitoring strategies, and family testing considerations.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic testing facilities ensures accessibility and convenience for patients nationwide.
Take Action Today
Don’t wait to get the answers you need for better neurological health management. Our team of genetic specialists is ready to assist you with comprehensive testing and professional counseling. Contact us today to schedule your PEX3 Gene Peroxisome Biogenesis Disorder Type 10A NGS Genetic DNA Test.
Call or WhatsApp: +1(267) 388-9828 to book your test or speak with our genetic counseling team. Early detection can make a significant difference in managing neurological conditions effectively.

