PEX13 Gene Zellweger Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The PEX13 Gene Zellweger Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for peroxisome biogenesis disorders. This advanced next-generation sequencing test specifically targets the PEX13 gene, which plays a critical role in peroxisomal membrane protein import. Peroxisomes are essential cellular organelles responsible for numerous metabolic processes, including fatty acid oxidation and plasmalogen synthesis. When PEX13 gene mutations occur, they disrupt normal peroxisome function, leading to Zellweger syndrome spectrum disorders characterized by severe neurological impairment and multi-system complications.
What Does This Test Measure and Detect?
This sophisticated genetic analysis utilizes next-generation sequencing technology to comprehensively examine the PEX13 gene for pathogenic variants. The test specifically identifies:
- Point mutations, insertions, and deletions in the PEX13 coding regions
- Missense, nonsense, and frameshift mutations affecting protein function
- Splice site variants that may alter gene expression
- Copy number variations impacting gene dosage
- Novel mutations previously unreported in medical literature
Who Should Consider This Genetic Test?
This specialized genetic screening is recommended for individuals presenting with:
- Neonatal hypotonia (poor muscle tone) and weak suck reflex
- Characteristic facial features including high forehead and large fontanelles
- Hepatomegaly and liver dysfunction in infancy
- Progressive neurological deterioration and developmental delays
- Visual and hearing impairments from early childhood
- Family history of peroxisomal disorders or consanguineous parents
- Abnormal very long-chain fatty acid levels in blood tests
- Unexplained seizures or epileptic episodes in infancy
Significant Benefits of Genetic Testing
Undergoing the PEX13 Gene Zellweger Syndrome test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Zellweger syndrome spectrum disorders with high precision
- Family Planning: Enables informed reproductive decisions for at-risk families
- Early Intervention: Facilitates timely management strategies and supportive care
- Prognostic Information: Helps predict disease progression and potential complications
- Treatment Guidance: Assists in developing personalized therapeutic approaches
- Genetic Counseling: Provides basis for comprehensive family genetic assessment
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your results:
- Positive Result: Indicates presence of pathogenic PEX13 mutations confirming Zellweger syndrome diagnosis
- Negative Result: Suggests absence of detectable PEX13 mutations, though other genetic causes should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation copies who may pass the condition to offspring
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Facilities
We maintain comprehensive genetic testing facilities across major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, reliable results with a standard turnaround time of 3-4 weeks.
Sample Collection and Preparation
This test accepts multiple sample types for your convenience:
- Blood samples collected in EDTA tubes
- Extracted DNA meeting quality specifications
- One drop of blood on FTA card for simplified collection
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session with our certified specialists
- Development of detailed pedigree chart documenting affected family members
- Review of previous diagnostic tests and imaging studies
Take Control of Your Genetic Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our team of genetic specialists and neurologists are ready to provide comprehensive evaluation and support. Early genetic testing can make a significant difference in management strategies and family planning decisions.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic counseling session and book the PEX13 Gene Zellweger Syndrome NGS Genetic DNA Test. Our compassionate team will guide you through every step of the testing process and ensure you receive the personalized care you deserve.
