SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Introduction to GLUT1 Deficiency Syndrome Testing
The SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations responsible for glucose transporter type 1 deficiency syndrome. This rare but significant neurological disorder affects the brain’s ability to receive adequate glucose, the primary energy source for neurological function. Our advanced testing methodology provides crucial diagnostic clarity for patients experiencing complex neurological symptoms that often go undiagnosed for years.
What This Advanced Genetic Test Detects
This specialized NGS genetic test specifically targets the SLC2A1 gene, which encodes the glucose transporter protein type 1 (GLUT1). The test identifies:
- Pathogenic mutations in the SLC2A1 gene sequence
- Deletions, insertions, and point mutations affecting glucose transport
- Genetic variations that impair glucose uptake across the blood-brain barrier
- Inherited and de novo mutations causing GLUT1 deficiency syndrome
- Specific genetic markers associated with neurological symptom severity
Clinical Indications: Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Unexplained early-onset seizures that are difficult to control with standard medications
- Developmental delays in motor skills, speech, and cognitive abilities
- Movement disorders including ataxia, dystonia, or spasticity
- Complex neurological symptoms with unclear etiology
- Family history of GLUT1 deficiency syndrome or similar neurological conditions
- Paroxysmal exercise-induced dyskinesia or other episodic neurological events
- Microcephaly or acquired microcephaly in infancy or childhood
Significant Benefits of SLC2A1 Genetic Testing
Undergoing this comprehensive genetic analysis provides multiple advantages:
- Definitive Diagnosis: Obtain clear answers for complex neurological symptoms
- Targeted Treatment: Enable ketogenic diet therapy, the primary treatment for GLUT1 deficiency
- Family Planning: Understand inheritance patterns and recurrence risks
- Early Intervention: Implement appropriate therapies and educational support
- Medical Management: Guide medication choices and avoid ineffective treatments
- Prognostic Information: Understand potential disease progression and outcomes
Understanding Your Genetic Test Results
Our comprehensive genetic counseling ensures you fully understand your test results:
- Positive Result: Indicates a pathogenic mutation in the SLC2A1 gene, confirming GLUT1 deficiency syndrome diagnosis
- Negative Result: Suggests GLUT1 deficiency is unlikely, though other neurological conditions may need evaluation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for family planning and genetic counseling
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We provide comprehensive SLC2A1 genetic testing services across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and neurological specialists ensures you receive expert care regardless of your location.
Take Action Today for Neurological Health
Don’t let unexplained neurological symptoms remain a mystery. Our SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 NGS Genetic DNA Test provides the answers you need for proper diagnosis and treatment. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card blood spots, getting tested has never been more convenient.
Book your genetic test today by calling our dedicated genetic counseling team at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your neurological health and accessing targeted treatment options.
