DDHD2 Gene SPG54 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Spastic Paraplegia
The DDHD2 Gene SPG54 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations associated with hereditary spastic paraplegia type 54 (SPG54). This advanced genetic screening utilizes next-generation sequencing technology to provide unparalleled accuracy in detecting DDHD2 gene variations that cause progressive neurological deterioration.
What Does This Test Measure?
This sophisticated genetic analysis specifically targets the DDHD2 gene, which encodes an enzyme crucial for phospholipid metabolism in nerve cells. The test detects:
- Point mutations and small insertions/deletions in the DDHD2 gene
- Pathogenic variants associated with autosomal recessive SPG54
- Genetic markers indicating increased risk for neurological degeneration
- Specific mutations affecting phospholipase activity in neuronal cells
Who Should Consider This Test?
This genetic test is particularly recommended for individuals experiencing:
- Progressive leg stiffness and muscle weakness starting in childhood or early adulthood
- Difficulty walking with spastic gait patterns
- Family history of hereditary spastic paraplegia
- Unexplained neurological symptoms affecting lower limbs
- Developmental delays accompanied by motor function deterioration
- Cognitive impairment with progressive motor symptoms
Clinical Benefits of DDHD2 Genetic Testing
Undergoing this comprehensive genetic assessment provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out SPG54 with high precision
- Family Planning Guidance: Enables informed reproductive decisions
- Early Intervention: Facilitates timely management strategies
- Prognostic Information: Helps predict disease progression patterns
- Treatment Personalization: Guides targeted therapeutic approaches
- Genetic Counseling: Provides comprehensive family risk assessment
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your DDHD2 gene analysis:
- Positive Result: Indicates presence of pathogenic DDHD2 mutations confirming SPG54 diagnosis
- Negative Result: Suggests absence of tested DDHD2 mutations, though other genetic causes may exist
- Variant of Uncertain Significance: Requires additional family studies for clarification
- Carrier Status: Identifies individuals carrying one copy of mutated gene without symptoms
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer the DDHD2 Gene SPG54 NGS Genetic DNA Test across our extensive network of testing facilities throughout the United States. Our state-of-the-art laboratories serve patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and numerous other cities nationwide.
Take Control of Your Neurological Health
Don’t let uncertainty about hereditary spastic paraplegia affect your quality of life. Our comprehensive DDHD2 genetic testing provides the clarity you need for informed healthcare decisions. With results available in just 3-4 weeks and convenient sample collection options including blood, extracted DNA, or FTA card blood spots, getting tested has never been easier.
Ready to schedule your DDHD2 Gene SPG54 NGS Genetic DNA Test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is prepared to guide you through the testing process and provide the expert genetic counseling you deserve.
