SLC2A1 Gene Paroxysmal Exercise-Induced Dyskinesia with Epilepsy and/or Hemolytic Anemia NGS Genetic DNA Test
Understanding SLC2A1 Gene Testing
The SLC2A1 Gene NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the SLC2A1 gene that cause GLUT1 deficiency syndrome. This rare but significant neurological disorder affects glucose transport across the blood-brain barrier, leading to complex symptoms including movement disorders, seizures, and blood abnormalities.
What Does This Test Measure?
This advanced genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the SLC2A1 gene, which encodes the glucose transporter protein type 1 (GLUT1). The test specifically detects:
- Point mutations and small insertions/deletions in the SLC2A1 gene
- Genetic variants affecting glucose transport efficiency
- Mutations associated with paroxysmal exercise-induced dyskinesia
- Genetic markers for epilepsy susceptibility
- Variants linked to hemolytic anemia development
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing specific neurological and hematological symptoms, including:
Primary Indications
- Episodic movement disorders triggered by physical exertion
- Unexplained seizures or epilepsy with atypical presentation
- Developmental delay in childhood with movement abnormalities
- Hemolytic anemia without clear underlying cause
- Family history of GLUT1 deficiency syndrome
Symptom Patterns
- Exercise-induced dystonia or chorea lasting minutes to hours
- Early-onset seizures resistant to conventional treatments
- Cognitive impairment worsening with fasting or exercise
- Intermittent hemolytic episodes with normal hemoglobin electrophoresis
- Movement abnormalities improving with carbohydrate intake
Clinical Benefits of SLC2A1 Testing
Early and accurate diagnosis through SLC2A1 gene testing provides numerous clinical advantages:
Diagnostic Clarity
- Definitive diagnosis of GLUT1 deficiency syndrome
- Differentiation from other movement disorders and epilepsies
- Elimination of unnecessary diagnostic procedures
- Accurate prognosis and disease progression prediction
Therapeutic Guidance
- Targeted treatment with ketogenic diet therapy
- Personalized anti-epileptic medication selection
- Prevention of inappropriate treatments
- Optimization of neurological management strategies
Family Planning and Genetic Counseling
- Accurate recurrence risk assessment for family members
- Informed reproductive decision-making
- Early intervention for affected relatives
- Comprehensive family genetic profiling
Understanding Your Test Results
Interpreting SLC2A1 gene test results requires professional genetic counseling expertise:
Positive Result Interpretation
- Confirmation of GLUT1 deficiency syndrome diagnosis
- Identification of specific mutation type and inheritance pattern
- Guidance for immediate therapeutic interventions
- Recommendations for family member testing
Negative Result Considerations
- Exclusion of SLC2A1-related disorders in most cases
- Recommendation for additional genetic testing if clinical suspicion remains
- Evaluation of other potential neurological conditions
- Continued clinical monitoring as appropriate
Variant of Uncertain Significance (VUS)
- Genetic changes with unclear clinical implications
- Recommendation for family studies to clarify significance
- Ongoing research correlation for future interpretation
- Clinical management based on symptom presentation
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
General Genetics Corporation provides comprehensive SLC2A1 gene testing services across the United States. Our state-of-the-art laboratories and genetic counseling services are available in all major metropolitan areas including:
- New York City and surrounding regions
- Los Angeles and Southern California
- Chicago and Midwest locations
- Houston and Texas facilities
- Miami and Florida centers
- Seattle and Pacific Northwest clinics
Pre-Test Requirements
To ensure optimal testing accuracy and clinical relevance, we require:
- Complete clinical history documentation
- Genetic counseling session with pedigree analysis
- Detailed symptom description and family history
- Informed consent for genetic testing
Take Control of Your Neurological Health
Don’t let unexplained neurological symptoms compromise your quality of life. The SLC2A1 gene test provides definitive answers and opens doors to targeted treatment options. Our team of genetic specialists and neurologists are ready to guide you through the testing process and help interpret your results.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your SLC2A1 gene test. Take the first step toward accurate diagnosis and effective management of your neurological condition.
