FA2H Gene SPG35 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Spastic Paraplegia
The FA2H Gene SPG35 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with SPG35, a specific subtype of hereditary spastic paraplegia (HSP). This advanced next-generation sequencing (NGS) technology provides unparalleled accuracy in identifying genetic variations within the FA2H (fatty acid 2-hydroxylase) gene, which plays a critical role in maintaining the structural integrity of myelin sheaths in the central nervous system.
What Does the FA2H Gene SPG35 Test Measure?
This sophisticated genetic test specifically targets and analyzes the FA2H gene located on chromosome 16q23.1, which encodes the enzyme responsible for fatty acid 2-hydroxylation in sphingolipids. The test detects:
- Point mutations, insertions, and deletions in the FA2H gene
- Autosomal recessive inheritance patterns associated with SPG35
- Specific pathogenic variants linked to progressive neurological deterioration
- Genetic markers that affect myelin formation and maintenance
- Variants that disrupt normal fatty acid metabolism in neural tissues
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals experiencing:
- Progressive leg stiffness and spasticity beginning in childhood or early adulthood
- Difficulty walking with increased muscle tone in lower extremities
- Family history of similar neurological symptoms across generations
- Developmental delays in motor skills during childhood
- Progressive weakness in leg muscles without clear explanation
- Abnormal gait patterns and balance issues
- Cognitive impairment accompanying motor symptoms
- Early-onset spastic paraplegia with additional neurological features
Clinical Benefits of FA2H Gene Testing
Undergoing the FA2H Gene SPG35 NGS Genetic DNA Test provides numerous clinical advantages:
- Definitive Diagnosis: Eliminates diagnostic uncertainty and provides clear genetic confirmation
- Early Intervention: Enables proactive management strategies before significant disability develops
- Personalized Treatment: Guides targeted therapeutic approaches based on specific genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and anticipate future needs
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling team will help you interpret your results:
- Positive Result: Indicates the presence of pathogenic FA2H gene mutations confirming SPG35 diagnosis
- Negative Result: Suggests absence of detectable FA2H mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene without showing symptoms
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | FA2H Gene SPG35 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 undergoing testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss implications and expectations
- Development of detailed pedigree chart mapping affected family members
- Discussion of potential psychological and social impacts of results
- Informed consent process ensuring complete understanding
Nationwide Accessibility
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, and San Jose. Our network of certified collection centers ensures easy access to this vital genetic testing service.
Take Control of Your Neurological Health
Don’t let uncertainty about hereditary spastic paraplegia control your future. The FA2H Gene SPG35 NGS Genetic DNA Test provides the clarity needed for informed medical decisions and personalized care planning. Our team of neurological genetics specialists is ready to guide you through every step of the testing process.
Ready to begin your genetic testing journey? Contact our genetic counseling team today at +1(267) 388-9828 or schedule your appointment online. Take the first step toward definitive diagnosis and personalized treatment strategies.
