PEX1 Gene Peroxisome Biogenesis Disorder Type 1B NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The PEX1 Gene Peroxisome Biogenesis Disorder Type 1B NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Zellweger syndrome spectrum disorders. This specialized genetic analysis utilizes next-generation sequencing technology to provide accurate detection of pathogenic variants in the PEX1 gene, which plays a critical role in peroxisome biogenesis and function.
What This Test Measures and Detects
This advanced genetic test specifically targets the PEX1 gene, which encodes a protein essential for peroxisome assembly. Peroxisomes are vital cellular organelles responsible for numerous metabolic processes, including fatty acid oxidation and bile acid synthesis. The test detects:
- Pathogenic mutations in the PEX1 gene
- Single nucleotide variants and small insertions/deletions
- Genetic variations associated with impaired peroxisome function
- Mutations linked to Zellweger syndrome spectrum disorders
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 poor feeding
- Children with developmental delays and neurological regression
- Patients with vision problems including retinal degeneration
- Individuals with hearing loss or auditory processing issues
- Those with liver dysfunction and abnormal liver enzymes
- Patients with facial dysmorphism characteristic of Zellweger syndrome
- Families with a history of peroxisomal disorders
Clinical Benefits of PEX1 Gene Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out PEX1-related disorders with high accuracy
- Family Planning: Enables informed reproductive decisions for at-risk families
- Early Intervention: Facilitates timely management and supportive care
- Prognostic Information: Helps predict disease progression and outcomes
- Genetic Counseling: Provides basis for comprehensive family genetic counseling
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your results:
- Positive Result: Indicates the presence of pathogenic PEX1 mutations, confirming diagnosis of peroxisome biogenesis disorder
- Negative Result: Suggests absence of detectable PEX1 mutations, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | PEX1 Gene Peroxisome Biogenesis Disorder Type 1B NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Discussion of testing implications with a genetic specialist
- Understanding of potential outcomes and their significance
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and neurological specialists ensures you receive expert care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our PEX1 Gene testing provides the answers you need for informed medical decisions and family planning. Contact our genetic specialists today to schedule your comprehensive evaluation.
Call or WhatsApp us at +1(267) 388-9828 to book your PEX1 Gene Peroxisome Biogenesis Disorder Type 1B NGS Genetic DNA Test today and take control of your genetic health journey.
