SLC2A1 Gene DYT8 NGS Genetic DNA Test
Comprehensive Genetic Testing for Movement Disorders
The SLC2A1 Gene DYT8 NGS Genetic DNA Test represents a cutting-edge diagnostic tool in the field of neurological genetics. This specialized genetic analysis focuses on identifying mutations in the SLC2A1 gene, which encodes the glucose transporter protein GLUT1. When this gene malfunctions, it can lead to significant neurological conditions characterized by movement disorders and episodic symptoms that significantly impact quality of life.
Using advanced Next-Generation Sequencing (NGS) technology, our test provides comprehensive analysis of the entire SLC2A1 gene with exceptional accuracy and reliability. This technology allows for the detection of various mutation types including point mutations, small insertions, deletions, and other genetic variations that might be missed by conventional testing methods.
What Does the SLC2A1 Gene DYT8 Test Detect?
This sophisticated genetic test specifically targets mutations in the SLC2A1 gene that are associated with:
- DYT8 dystonia (also known as paroxysmal non-kinesigenic dyskinesia)
- GLUT1 deficiency syndrome
- Paroxysmal exercise-induced dyskinesias
- Various forms of episodic movement disorders
- Early-onset absence epilepsy with movement abnormalities
The test examines the complete coding region of the SLC2A1 gene, including all exons and flanking intronic regions, ensuring comprehensive coverage for accurate mutation detection. Our advanced bioinformatics pipeline analyzes sequencing data to identify pathogenic variants that could explain clinical symptoms.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is particularly recommended for individuals experiencing:
- Episodic movement disorders triggered by various factors
- Unexplained dystonia or abnormal muscle contractions
- Paroxysmal dyskinesias that occur spontaneously or with specific triggers
- Family history of movement disorders or dystonia
- Early-onset neurological symptoms with fluctuating course
- Diagnostic uncertainty regarding movement disorder etiology
- Planning for family and reproductive decisions with known family history
Significant Benefits of SLC2A1 Genetic Testing
Undergoing the SLC2A1 Gene DYT8 NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out specific genetic causes of movement disorders
- Treatment Guidance: Results can inform targeted treatment approaches including ketogenic diet therapy
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease course and potential complications
- End Diagnostic Odyssey: Reduces unnecessary testing and medical procedures
- Peace of Mind: Provides clarity and understanding of neurological symptoms
Understanding Your Test Results
Our comprehensive genetic counseling service helps you interpret your results:
Positive Result
A positive result indicates the presence of a pathogenic mutation in the SLC2A1 gene. This confirms the genetic basis of symptoms and opens doors to targeted management strategies. Our genetic counselors will explain the implications for you and your family members.
Negative Result
A negative result means no disease-causing mutations were detected in the SLC2A1 gene. However, this doesn’t completely rule out a genetic cause, as other genes or mutation types might be involved. Further evaluation may be recommended.
Variant of Uncertain Significance (VUS)
Sometimes, genetic changes of unknown clinical significance are identified. Our team provides guidance on monitoring and potential follow-up testing as research evolves.
Test Pricing and Details
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | SLC2A1 Gene DYT8 NGS Genetic DNA Test | – |
| Discount Price | Limited Time Offer | $500 |
| Regular Price | Standard Pricing | $700 |
| Turnaround Time | Results Delivery | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or Blood on FTA Card | – |
Nationwide Accessibility
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, and many other cities. Our network of certified collection centers ensures easy access to this important genetic testing service.
Pre-Test Requirements
To ensure the most accurate and meaningful results, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of neurological symptoms and family history
- Informed consent for genetic testing
Take Control of Your Neurological Health
Don’t let unexplained movement disorders or neurological symptoms control your life. The SLC2A1 Gene DYT8 NGS Genetic DNA Test provides the answers you need to make informed healthcare decisions. Our team of genetic specialists, neurologists, and counselors are here to support you throughout the testing process.
Ready to get answers? Book your SLC2A1 genetic test today by calling our dedicated genetic testing line at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your neurological health with confidence and clarity.
