SPAST Gene SPG4 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Spastic Paraplegia
The SPAST Gene SPG4 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying hereditary spastic paraplegia type 4 (SPG4), one of the most common forms of inherited neurological disorders affecting motor function. This sophisticated genetic analysis utilizes next-generation sequencing technology to provide comprehensive evaluation of the SPAST gene, which plays a critical role in maintaining proper neuronal function and axonal transport within the central nervous system.
What Does the SPAST Gene SPG4 Test Detect?
This advanced genetic test specifically targets and analyzes the SPAST gene (also known as spastin) located on chromosome 2p22.3. The test detects:
- Pathogenic mutations including missense, nonsense, and frameshift variants
- Copy number variations and large deletions/duplications
- Splice site mutations affecting gene expression
- Novel variants of uncertain significance requiring clinical correlation
The SPAST gene encodes the protein spastin, which is essential for proper microtubule dynamics and axonal transport in upper motor neurons. Mutations in this gene disrupt normal neuronal function, leading to the characteristic symptoms of hereditary spastic paraplegia.
Who Should Consider SPAST Gene SPG4 Testing?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Progressive leg stiffness and muscle weakness
- Difficulty walking or changes in gait pattern
- Family history of hereditary spastic paraplegia
- Unexplained spasticity in lower extremities
- Early-onset neurological symptoms without clear diagnosis
- Planning pregnancy with known family history of SPG4
- Differential diagnosis of other spastic neurological conditions
Clinical Benefits of SPAST Gene Testing
Comprehensive Diagnostic Advantages
Undergoing SPAST Gene SPG4 testing provides numerous clinical benefits:
- Accurate Diagnosis: Confirms or rules out hereditary spastic paraplegia type 4 with high precision
- Family Planning Guidance: Enables informed reproductive decisions for at-risk couples
- Treatment Optimization: Guides appropriate therapeutic interventions and management strategies
- Prognostic Information: Helps predict disease progression and potential complications
- Genetic Counseling: Provides basis for comprehensive family risk assessment
- Research Contribution: Advances understanding of SPG4 and related neurological disorders
Understanding Your Test Results
Interpretation Guidelines
Your SPAST Gene SPG4 test results will fall into one of several categories:
- Positive Result: Indicates the presence of a known pathogenic mutation in the SPAST gene, confirming hereditary spastic paraplegia type 4 diagnosis
- Negative Result: No pathogenic mutations detected, though this does not completely rule out other forms of hereditary spastic paraplegia
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance is currently unknown, requiring further evaluation
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but may not show symptoms
All results are accompanied by detailed interpretation from our board-certified genetic specialists and recommendations for appropriate follow-up care.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | SPAST Gene SPG4 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 |
| Specialty | Neurology and Genetics |
Pre-Test Requirements and Preparation
Before undergoing SPAST Gene SPG4 testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss implications and expectations
- Development of detailed family pedigree chart
- Review of potential psychological impacts of genetic testing
- Discussion of insurance coverage and financial considerations
Nationwide Testing Availability
We proudly offer SPAST Gene SPG4 NGS Genetic DNA 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 collection centers ensures accessible testing for patients nationwide.
Take Control of Your Neurological Health
Don’t let uncertainty about hereditary spastic paraplegia affect your quality of life. Our SPAST Gene SPG4 NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. With advanced NGS technology and expert genetic analysis, you can make informed decisions about your neurological health and family planning.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward definitive diagnosis and personalized care for hereditary spastic paraplegia.
