PEX14 Gene Zellweger Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The PEX14 Gene Zellweger Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neurological conditions. This advanced test utilizes next-generation sequencing technology to identify mutations in the PEX14 gene, which plays a critical role in peroxisome biogenesis and function. Peroxisomes are essential cellular organelles responsible for various metabolic processes, and their dysfunction leads to severe neurological impairments characteristic of Zellweger syndrome spectrum disorders.
What Does This Test Measure?
This comprehensive genetic analysis specifically targets the PEX14 gene, examining it for pathogenic variants that disrupt peroxisomal assembly and function. The test detects:
- Point mutations and small insertions/deletions in the PEX14 gene
- Copy number variations affecting gene dosage
- Compound heterozygous mutations
- Novel variants with potential clinical significance
Who Should Consider This Test?
This genetic test is particularly important for individuals presenting with symptoms suggestive of Zellweger syndrome or related peroxisomal disorders:
- Infants with severe hypotonia (low muscle tone) and poor feeding
- Children experiencing developmental delays and failure to thrive
- Patients with vision problems including cataracts or retinal degeneration
- Individuals with hearing impairment or sensorineural hearing loss
- Those showing liver dysfunction or hepatomegaly
- Patients with distinctive facial features associated with Zellweger syndrome
- Family members of individuals diagnosed with peroxisomal disorders
Key Benefits of PEX14 Genetic Testing
- Early Diagnosis: Enables prompt intervention and management strategies
- Accurate Prognosis: Provides clear understanding of disease progression
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Treatment Guidance: Helps direct appropriate therapeutic approaches
- Differential Diagnosis: Distinguishes Zellweger syndrome from other neurological conditions
Understanding Your Test Results
Our comprehensive genetic counseling service helps you interpret your results effectively:
- Positive Result: Indicates the presence of pathogenic PEX14 mutations, confirming Zellweger syndrome diagnosis
- Negative Result: Suggests absence of detectable mutations in the PEX14 gene
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry one copy of a mutated gene
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and treatment planning. Our genetic counselors are available to discuss your testing options and provide comprehensive pre-test counseling. Contact us today to schedule your appointment and take the first step toward understanding your genetic health.
Call or WhatsApp: +1(267) 388-9828 to book your PEX14 Gene Zellweger Syndrome NGS Genetic DNA Test today. Our team is ready to assist you with scheduling, insurance questions, and any concerns you may have about the testing process.
