AP4S1 Gene SPG52 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Spastic Paraplegia
The AP4S1 Gene SPG52 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the AP4S1 gene that cause hereditary spastic paraplegia type 52 (SPG52). This advanced genetic screening utilizes next-generation sequencing technology to provide unparalleled accuracy in detecting genetic variants associated with progressive neurological disorders affecting motor function and mobility.
What Does the AP4S1 Gene SPG52 Test Measure?
This sophisticated genetic analysis specifically targets the AP4S1 gene, which encodes the sigma subunit of the adaptor protein complex 4 (AP-4). The test detects:
- Point mutations, deletions, and insertions in the AP4S1 gene
- Pathogenic variants associated with autosomal recessive hereditary spastic paraplegia
- Genetic markers for SPG52, a form of complex hereditary spastic paraplegia
- Variants affecting intracellular protein trafficking and neuronal function
Who Should Consider This Genetic Test?
This test is recommended for individuals experiencing:
- Progressive lower limb spasticity and weakness
- Gait abnormalities and walking difficulties
- Developmental delays in childhood
- Intellectual disability of unknown origin
- Family history of hereditary spastic paraplegia
- Unexplained neurological symptoms with spastic paraparesis
- Early-onset movement disorders
Key Benefits of AP4S1 Genetic Testing
- Accurate Diagnosis: Provides definitive identification of SPG52-causing mutations
- Early Intervention: Enables timely treatment and management strategies
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides targeted therapeutic approaches based on genetic findings
- Prognostic Information: Helps predict disease progression and outcomes
- Research Contribution: Advances understanding of hereditary neurological disorders
Understanding Your Test Results
Your genetic test report will provide comprehensive information about your AP4S1 gene status:
- Positive Result: Indicates the presence of pathogenic mutations confirming SPG52 diagnosis
- Negative Result: Suggests absence of known AP4S1 mutations, though other genetic causes may be considered
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed interpretation from our certified genetic counselors and neurologists, ensuring you receive comprehensive guidance for next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | AP4S1 Gene SPG52 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:
- Complete clinical history documentation
- Genetic counseling session with our specialists
- Development of detailed family pedigree chart
- Discussion of testing implications and potential outcomes
Nationwide Accessibility
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, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our network ensures accessible genetic testing services regardless of your location.
Take Control of Your Neurological Health Today
Don’t let uncertainty about hereditary neurological conditions affect your quality of life. The AP4S1 Gene SPG52 NGS Genetic DNA Test provides the clarity needed for informed medical decisions and personalized treatment approaches. Our team of neurologists and genetic specialists are ready to guide you through every step of the testing process.
Call +1(267) 388-9828 now to schedule your genetic counseling session and book your AP4S1 Gene SPG52 test. Take the first step toward understanding your genetic health and securing your neurological future.
