SPR Gene Dystonia DOPA-Responsive Autosomal Recessive NGS Genetic DNA Test
Comprehensive Introduction to SPR Gene Dystonia Testing
The SPR Gene Dystonia DOPA-Responsive Autosomal Recessive NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the sepiapterin reductase (SPR) gene. This sophisticated testing methodology plays a crucial role in diagnosing DOPA-responsive dystonia (DRD), a rare but treatable movement disorder that manifests through involuntary muscle contractions and abnormal postures. The importance of this test lies in its ability to provide definitive genetic confirmation, enabling healthcare providers to implement targeted treatment strategies that can significantly improve patient outcomes and quality of life.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based genetic analysis specifically targets:
- Pathogenic variants in the SPR gene located on chromosome 2p14-p12
- Autosomal recessive inheritance patterns of DOPA-responsive dystonia
- Mutations affecting sepiapterin reductase enzyme function
- Genetic abnormalities impacting dopamine and serotonin synthesis pathways
- Specific nucleotide changes, deletions, insertions, and copy number variations
Clinical Indications and Who Should Consider Testing
This genetic test is particularly recommended for individuals experiencing:
- Progressive dystonia with diurnal fluctuation patterns
- Muscle rigidity and abnormal posturing beginning in childhood
- Tremors affecting limbs, particularly during movement
- Parkinsonian features including bradykinesia and rigidity
- Family history consistent with autosomal recessive inheritance
- Partial or complete response to levodopa treatment trials
- Developmental delay or cognitive impairment alongside movement symptoms
Significant Benefits of Genetic Testing
Undergoing the SPR Gene Dystonia test provides numerous advantages:
- Accurate Diagnosis: Eliminates diagnostic uncertainty and prevents misdiagnosis
- Personalized Treatment: Enables targeted levodopa therapy with optimal dosing
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely treatment initiation before symptom progression
- Prognostic Insights: Helps predict disease course and potential complications
- Research Contribution: Advances scientific understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates pathogenic SPR gene mutations confirming diagnosis, requiring immediate neurological consultation for treatment initiation
- Negative Result: Suggests alternative diagnoses should be explored while providing reassurance about specific SPR-related dystonia
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation and potential family studies
- Carrier Status: Important information for family members regarding inheritance risks
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | SPR Gene Dystonia DOPA-Responsive Autosomal Recessive 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 and Preparation
To ensure optimal testing outcomes, we require:
- Complete clinical history documentation focusing on neurological symptoms
- Genetic counseling session to create detailed family pedigree chart
- Informed consent understanding test implications and potential outcomes
- Discussion of insurance coverage and financial considerations
- Coordination with referring neurologist for comprehensive care integration
Nationwide Accessibility and Convenience
We maintain comprehensive testing facilities across the United States, with specialized collection centers in:
- New York City and surrounding metropolitan areas
- Los Angeles and Southern California regions
- Chicago and Midwest locations
- Houston, Dallas, and Texas facilities
- Phoenix, Arizona and Southwest centers
- All other major metropolitan areas nationwide
Take Control of Your Neurological Health Today
Don’t let uncertainty about movement disorders affect your quality of life. Our SPR Gene Dystonia DOPA-Responsive Autosomal Recessive NGS Genetic DNA Test provides the clarity needed for effective treatment planning and family management. With our discounted price of $500 USD and comprehensive nationwide coverage, accessing advanced genetic testing has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated genetic specialists are ready to guide you through every step of the testing process and help you achieve the diagnostic certainty you deserve.
