CYP2U1 Gene SPG56 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Spastic Paraplegia
The CYP2U1 Gene SPG56 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations associated with SPG56, a rare autosomal recessive form of hereditary spastic paraplegia. This advanced next-generation sequencing test provides unparalleled accuracy in detecting CYP2U1 gene variants that cause progressive neurological degeneration affecting motor function and mobility.
What Does This Test Measure?
This sophisticated genetic analysis specifically targets the CYP2U1 gene located on chromosome 4q25, which encodes cytochrome P450 family 2 subfamily U member 1. The test employs cutting-edge NGS technology to:
- Sequence the entire CYP2U1 gene with 99.9% accuracy
- Identify point mutations, insertions, deletions, and splice site variants
- Detect both homozygous and compound heterozygous mutations
- Provide comprehensive variant analysis and interpretation
- Offer detailed pathogenicity assessment of identified variants
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of hereditary spastic paraplegia, including:
- Progressive leg stiffness and spasticity beginning in childhood or early adulthood
- Difficulty walking with characteristic spastic gait
- Muscle weakness primarily affecting lower extremities
- Hyperreflexia and extensor plantar responses
- Family history of similar neurological symptoms
- Developmental delay or intellectual disability in some cases
- Urinary urgency or incontinence associated with spasticity
Clinical Benefits of CYP2U1 Genetic Testing
Undergoing CYP2U1 gene testing provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out SPG56 with molecular precision
- Early Intervention: Enables proactive management strategies before significant disability develops
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches and rehabilitation programs
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling ensures you fully comprehend your test outcomes:
- Positive Result: Indicates pathogenic mutations in both CYP2U1 gene copies, confirming SPG56 diagnosis
- Negative Result: Suggests absence of detectable CYP2U1 mutations, though other genetic causes should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation who may pass the condition to offspring
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | CYP2U1 Gene SPG56 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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) |
Nationwide Testing Availability
GGC DNA maintains comprehensive testing facilities across the United States, with specialized neurology genetics centers in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network ensures accessible genetic testing and counseling services for patients nationwide.
Take Control of Your Neurological Health
Don’t let uncertainty about hereditary spastic paraplegia affect your quality of life. Our CYP2U1 Gene SPG56 NGS Genetic DNA Test provides the clarity needed for informed medical decisions and personalized care planning. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class neurological genetic testing.
Book your CYP2U1 genetic test today by calling our dedicated genetics hotline at +1(267) 388-9828 or schedule your appointment online. Our genetic counselors are available to discuss your symptoms, family history, and testing options to ensure you receive the most appropriate diagnostic approach.
