PEX5 Gene Peroxisome Biogenesis Disorder Type 2A NGS Genetic DNA Test
Comprehensive Genetic Analysis for Neurological Disorders
The PEX5 Gene Peroxisome Biogenesis Disorder Type 2A NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare neurological conditions. This advanced genetic test utilizes next-generation sequencing technology to identify mutations in the PEX5 gene, which plays a critical role in peroxisome biogenesis and function. Peroxisomes are essential cellular organelles responsible for numerous metabolic processes, including fatty acid oxidation and bile acid synthesis.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the PEX5 gene to identify pathogenic variants associated with Zellweger syndrome spectrum disorders. The test analyzes:
- Point mutations, insertions, and deletions in the PEX5 gene
- Variants affecting peroxisome targeting signal recognition
- Genetic alterations impacting protein import into peroxisomes
- Inheritance patterns for genetic counseling purposes
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of peroxisome biogenesis disorders, including:
- Infants with severe hypotonia (low muscle tone) and feeding difficulties
- Children experiencing developmental delays and failure to thrive
- Patients with vision abnormalities including retinopathy and cataracts
- Individuals with hearing loss and sensorineural impairments
- Those exhibiting liver dysfunction and abnormal bile acid metabolism
- Patients with characteristic facial features associated with Zellweger syndrome
- Family members of individuals diagnosed with peroxisome disorders
Clinical Benefits of Genetic Testing
Undergoing the PEX5 gene test provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive identification of genetic causes for complex symptoms
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Offers crucial information for reproductive decision-making
- Proactive Management: Facilitates early intervention and specialized care planning
- Genetic Counseling: Supports informed decisions about inheritance risks and family health
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your PEX5 gene status:
- Positive Result: Indicates the presence of pathogenic variants associated with peroxisome biogenesis disorders, requiring specialized medical management
- Negative Result: Suggests no detectable mutations in the PEX5 gene, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications, requiring ongoing monitoring
- Carrier Status: Reveals if individuals carry one copy of a mutated gene, important for family planning decisions
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 cities. Our network of certified genetic testing facilities ensures accessible, reliable service nationwide.
Take Control of Your Genetic Health
Don’t let uncertainty about neurological symptoms affect your quality of life. Our PEX5 Gene Peroxisome Biogenesis Disorder Type 2A NGS Genetic DNA Test provides the clarity you need for informed medical decisions. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book this essential diagnostic test. Our team of genetic specialists is ready to guide you through every step of the testing process and help you understand your results for better health outcomes.
