PNPLA6 Gene SPG39 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Spastic Paraplegia
The PNPLA6 Gene SPG39 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with hereditary spastic paraplegia type 39. This advanced testing methodology utilizes next-generation sequencing technology to provide comprehensive analysis of the PNPLA6 gene, which plays a critical role in neurological function and motor coordination.
What Does This Test Measure?
This sophisticated genetic test specifically targets and analyzes the PNPLA6 (patatin-like phospholipase domain-containing protein 6) gene for mutations that cause SPG39, a form of autosomal recessive hereditary spastic paraplegia. The test examines:
- Complete PNPLA6 gene sequencing for point mutations
- Detection of small insertions and deletions
- Identification of pathogenic variants affecting neurological function
- Comprehensive analysis of gene regions associated with motor neuron degeneration
Who Should Consider This Test?
This genetic test is particularly recommended for individuals experiencing:
- Progressive leg stiffness and spasticity
- Difficulty with walking and coordination
- Muscle weakness in lower extremities
- Family history of hereditary spastic paraplegia
- Unexplained gait abnormalities
- Early-onset progressive neurological symptoms
- Children with developmental motor delays
Clinical Benefits of PNPLA6 Genetic Testing
Undergoing PNPLA6 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out SPG39 with high precision
- Early Intervention: Enables proactive management strategies
- Family Planning: Provides crucial information for genetic counseling
- Personalized Treatment: Guides targeted therapeutic approaches
- Prognostic Information: Helps predict disease progression
- Research Contribution: Advances understanding of neurological disorders
Understanding Your Test Results
Your PNPLA6 genetic test results will fall into one of several categories:
- Positive Result: Indicates the presence of pathogenic mutations associated with SPG39, requiring comprehensive neurological evaluation and management
- Negative Result: Suggests no detected mutations in the PNPLA6 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact, requiring ongoing monitoring
- Carrier Status: Determines if you carry one copy of a mutated gene without showing symptoms
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or Blood on FTA Card |
Nationwide Testing Availability
We proudly offer PNPLA6 genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our extensive network ensures accessible genetic testing for patients nationwide.
Pre-Test Preparation and Genetic Counseling
Before undergoing PNPLA6 genetic testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our certified specialists
- Development of detailed family pedigree chart
- Discussion of potential results and implications
- Understanding of insurance coverage and financial considerations
Take Control of Your Neurological Health
Don’t let uncertainty about hereditary spastic paraplegia affect your quality of life. Our PNPLA6 Gene SPG39 NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With advanced NGS technology and expert genetic analysis, we deliver reliable results that can transform your approach to neurological health management.
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 understanding your genetic profile and securing your neurological future.

