BSCL2 Gene SPG17 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Spastic Paraplegia
The BSCL2 Gene SPG17 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with hereditary spastic paraplegia type 17. This advanced next-generation sequencing test provides critical insights for individuals and families affected by progressive neurological conditions, enabling accurate diagnosis and informed medical decision-making.
What Does the BSCL2 Gene SPG17 Test Measure?
This sophisticated genetic test specifically analyzes the BSCL2 (Berardinelli-Seip congenital lipodystrophy 2) gene, which plays a crucial role in neurological function and lipid metabolism. The test detects:
- Pathogenic variants in the BSCL2 gene associated with SPG17
- Single nucleotide polymorphisms (SNPs) affecting protein function
- Insertions, deletions, and copy number variations
- Missense, nonsense, and frameshift mutations
- Regulatory region abnormalities impacting gene expression
Who Should Consider BSCL2 Gene SPG17 Testing?
This genetic test is particularly important for individuals experiencing:
- Progressive leg stiffness and spasticity
- Difficulty walking or changes in gait pattern
- Muscle weakness in lower extremities
- Family history of hereditary spastic paraplegia
- Unexplained neurological symptoms beginning in adulthood
- Progressive muscle atrophy with spasticity
- Balance and coordination difficulties
- Urinary urgency or incontinence with neurological symptoms
Clinical Benefits of BSCL2 Gene SPG17 Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out SPG17 with 99% accuracy
- Early Intervention: Enables proactive management strategies
- Family Planning: Provides crucial information for genetic counseling
- Treatment Guidance: Informs targeted therapeutic approaches
- Prognostic Information: Helps predict disease progression
- Clinical Trial Eligibility: Opens access to specialized treatments
- Family Member Screening: Identifies at-risk relatives
Understanding Your Test Results
Our comprehensive genetic counseling ensures you fully understand your results:
- Positive Result: Indicates presence of BSCL2 mutation associated with SPG17
- Negative Result: No detected mutations in analyzed regions
- Variant of Uncertain Significance: Genetic changes requiring further evaluation
- Carrier Status: Information about inheritance patterns
All results include detailed interpretation by board-certified genetic specialists and personalized recommendations for next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | BSCL2 Gene SPG17 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 |
| Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session prior to testing
- Detailed pedigree chart of affected family members
- Informed consent for genetic testing
- Insurance pre-authorization when applicable
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Take Control of Your Neurological Health Today
Don’t let uncertainty about hereditary spastic paraplegia affect your quality of life. Our BSCL2 Gene SPG17 NGS Genetic DNA Test provides the clarity you need for informed medical decisions and personalized care planning. With our comprehensive genetic counseling and expert interpretation services, you’ll receive the support and guidance necessary throughout your diagnostic journey.
Ready to schedule your test? Call our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing your neurological future.
