GJC2 Gene SPG44 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Spastic Paraplegia
The GJC2 Gene SPG44 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying hereditary spastic paraplegia type 44 (SPG44), a progressive neurological disorder affecting motor function. This sophisticated genetic analysis utilizes next-generation sequencing technology to examine the GJC2 gene, which encodes connexin 47—a crucial protein involved in gap junction communication between glial cells in the central nervous system.
What Does This Test Measure?
This comprehensive genetic test specifically targets the GJC2 gene to detect pathogenic variants responsible for SPG44. The test examines:
- Point mutations, insertions, and deletions in the GJC2 gene coding regions
- Regulatory elements affecting gene expression
- Copy number variations and structural rearrangements
- All known pathogenic variants associated with hereditary spastic paraplegia
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Progressive leg stiffness and spasticity beginning in childhood or early adulthood
- Difficulty walking with characteristic scissoring gait
- Muscle weakness primarily affecting the lower limbs
- Family history of similar neurological symptoms
- Unexplained motor development delays in children
- Progressive balance and coordination difficulties
Clinical Benefits of Genetic Testing
Undergoing the GJC2 Gene SPG44 NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out SPG44 with high precision
- Personalized Treatment: Enables targeted therapeutic interventions
- Family Planning: Provides essential information for genetic counseling
- Prognostic Insights: Helps predict disease progression and severity
- Clinical Management: Guides appropriate rehabilitation strategies
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates the presence of pathogenic GJC2 gene variants associated with SPG44
- Negative Result: Suggests absence of known SPG44-causing mutations in the GJC2 gene
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if you carry a single copy of a mutated gene
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | GJC2 Gene SPG44 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 test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Understanding of potential psychological impacts
Nationwide Testing Availability
We proudly offer the GJC2 Gene SPG44 NGS Genetic DNA Test across our extensive network of testing facilities throughout the United States. Our state-of-the-art laboratories serve patients in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose.
Take Control of Your Neurological Health
Don’t let uncertainty about hereditary spastic paraplegia affect your quality of life. Our specialized genetic testing provides the clarity needed for informed medical decisions and personalized care planning. With rapid turnaround times and comprehensive genetic analysis, you can access the answers you need to manage your neurological health effectively.
Ready to schedule your GJC2 Gene SPG44 NGS Genetic DNA Test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online to begin your journey toward accurate diagnosis and targeted treatment.
