PEX6 Gene Zellweger Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The PEX6 Gene Zellweger Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare neurological conditions. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the PEX6 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.
What Does This Test Measure?
This sophisticated genetic analysis specifically targets the PEX6 gene, which encodes a protein essential for peroxisome assembly. The test detects:
- Point mutations and small insertions/deletions in the PEX6 gene
- Compound heterozygous mutations associated with Zellweger syndrome
- Autosomal recessive inheritance patterns
- Genetic variants affecting peroxisomal matrix protein import
Who Should Consider This Test?
This genetic screening is recommended for individuals presenting with:
- Severe hypotonia (low muscle tone) in infancy
- Developmental delays and failure to thrive
- Seizures or neurological abnormalities
- Vision and hearing impairments
- Characteristic facial features associated with Zellweger spectrum disorders
- Family history of peroxisomal disorders
- Abnormal liver function or adrenal insufficiency
Key Benefits of PEX6 Genetic Testing
- Early Diagnosis: Enables prompt intervention and management strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Accurate Prognosis: Helps healthcare providers develop targeted treatment plans
- Comprehensive Analysis: Utilizes cutting-edge NGS technology for maximum accuracy
- Expert Interpretation: Results reviewed by board-certified genetic specialists
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of genetic specialists:
- Positive Result: Indicates the presence of PEX6 gene mutations associated with Zellweger syndrome spectrum disorders
- Negative Result: Suggests no detectable mutations in the PEX6 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who carry one copy of a mutated gene
Test Pricing Information
| Test Component | Price (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 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 testing centers ensures accessibility and convenience for patients nationwide.
Take Action Today
Don’t wait to get the answers you need for better health management. Our experienced 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 PEX6 Gene Zellweger Syndrome NGS Genetic DNA Test today!
