SPG11 Gene NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Spastic Paraplegia
The SPG11 Gene NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the SPG11 gene responsible for hereditary spastic paraplegia type 11 (SPG11). This sophisticated genetic analysis utilizes next-generation sequencing technology to provide accurate, reliable results for patients and families affected by this progressive neurological condition.
What Does the SPG11 Gene Test Measure?
This advanced genetic test specifically targets and analyzes the SPG11 gene located on chromosome 15q21.1, which encodes the spatacsin protein. The test detects:
- Pathogenic mutations including nonsense, missense, and frameshift variants
- Copy number variations and large deletions
- Splice site mutations affecting protein function
- Compound heterozygous mutations in autosomal recessive inheritance
Who Should Consider SPG11 Genetic Testing?
This test is particularly recommended for individuals presenting with:
- Progressive spasticity in lower limbs beginning in childhood or early adulthood
- Difficulty walking with stiff, clumsy gait patterns
- Muscle weakness and increased muscle tone in legs
- Family history of similar neurological symptoms
- Cognitive impairment or learning difficulties accompanying motor symptoms
- Thin corpus callosum observed on brain MRI
- Peripheral neuropathy symptoms
Clinical Benefits of SPG11 Genetic Testing
Undergoing SPG11 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms hereditary spastic paraplegia type 11, eliminating diagnostic uncertainty
- Family Planning: Enables informed reproductive decisions for carriers and affected families
- Treatment Guidance: Helps neurologists develop targeted management strategies
- Prognostic Information: Provides insights into disease progression and expected symptoms
- Genetic Counseling: Facilitates comprehensive family risk assessment
- Research Participation: Opens opportunities for clinical trials and emerging therapies
Understanding Your Test Results
Your SPG11 genetic test results will fall into one of several categories:
- Positive Result: Identifies pathogenic mutations confirming SPG11 diagnosis
- Negative Result: No SPG11 mutations detected, suggesting alternative diagnoses
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results are accompanied by detailed interpretation from our board-certified genetic specialists, ensuring you receive comprehensive guidance on next steps and management options.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | SPG11 Gene 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 SPG11 genetic test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Family pedigree chart creation identifying affected relatives
- Neurological evaluation to document current symptoms
Nationwide Testing Availability
We proudly offer SPG11 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, San Jose, and many other cities. Our network of certified collection facilities ensures accessible testing regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about hereditary spastic paraplegia affect your quality of life. Our specialized neurological genetics team is ready to provide the comprehensive testing and support you need. Contact us today to schedule your SPG11 genetic test and begin your journey toward accurate diagnosis and personalized care.
Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or request more information about SPG11 genetic testing.
