SLC2A1 Gene DYT18 NGS Genetic DNA Test
Comprehensive Genetic Testing for DYT18 Dystonia
The SLC2A1 Gene DYT18 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations responsible for DYT18 dystonia and GLUT1 deficiency syndrome. This advanced testing methodology provides crucial insights for patients and families affected by rare movement disorders, enabling accurate diagnosis and targeted therapeutic interventions.
What is SLC2A1 Gene DYT18 Testing?
The SLC2A1 gene encodes the glucose transporter protein type 1 (GLUT1), which is essential for transporting glucose across the blood-brain barrier. Mutations in this gene lead to GLUT1 deficiency syndrome, clinically recognized as DYT18 dystonia. This condition manifests as paroxysmal exercise-induced dyskinesia, characterized by sudden, involuntary movements triggered by physical exertion.
What Does the Test Detect?
Our NGS-based genetic testing comprehensively analyzes the SLC2A1 gene to identify:
- Point mutations affecting glucose transport function
- Deletions and insertions disrupting protein structure
- Splice site variants affecting gene expression
- Missense and nonsense mutations causing GLUT1 deficiency
- Complex rearrangements impacting neurological function
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Exercise-induced involuntary movements or dystonia
- Episodic neurological symptoms triggered by physical activity
- Developmental delay in childhood with movement abnormalities
- Seizures that respond poorly to conventional anti-epileptic drugs
- Family history of movement disorders or GLUT1 deficiency
- Unexplained paroxysmal dyskinesia episodes
- Cognitive impairment with movement abnormalities
Benefits of SLC2A1 Genetic Testing
Transformative Diagnostic Advantages
Undergoing SLC2A1 gene testing provides numerous clinical benefits:
- Accurate Diagnosis: Confirms GLUT1 deficiency syndrome with molecular precision
- Targeted Treatment: Enables ketogenic diet therapy, the gold standard treatment
- Family Planning: Provides genetic counseling information for inheritance patterns
- Symptom Management: Guides appropriate therapeutic interventions
- Prognostic Information: Helps predict disease progression and outcomes
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Comprehensive Result Interpretation
Your genetic test results will be carefully analyzed and explained by our expert genetic counselors:
- Positive Result: Confirms SLC2A1 mutation and GLUT1 deficiency diagnosis
- Negative Result: Rules out SLC2A1-related disorders with high confidence
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation copies
All results include detailed clinical implications and management recommendations tailored to your specific genetic findings.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | SLC2A1 Gene DYT18 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 |
| Specialty | Neurology and Genetics |
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, and San Jose. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Action for Your Neurological Health
Don’t let unexplained movement disorders remain a mystery. Early diagnosis through SLC2A1 genetic testing can lead to effective treatment strategies and improved quality of life. Our team of genetic specialists and neurologists are ready to guide you through the testing process and provide comprehensive care.
Ready to schedule your genetic test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your neurological health with confidence and clarity.
