SLC6A9 Gene Glycine Encephalopathy with Normal Serum Glycine NGS Genetic DNA Test
Understanding Glycine Encephalopathy with Normal Serum Glycine
Glycine encephalopathy with normal serum glycine represents a rare but significant metabolic disorder affecting the central nervous system. Unlike classical glycine encephalopathy where elevated serum glycine levels are present, this specific variant involves normal serum glycine concentrations while still causing severe neurological symptoms. The SLC6A9 gene plays a crucial role in glycine transport across cell membranes, particularly in the brain, where proper glycine regulation is essential for normal neurological function.
What This Advanced Genetic Test Detects
Our comprehensive NGS (Next-Generation Sequencing) genetic DNA test specifically targets the SLC6A9 gene to identify mutations responsible for glycine encephalopathy with normal serum glycine levels. The test examines:
- Complete sequencing of the SLC6A9 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of splice site variants affecting gene function
- Analysis of regulatory regions influencing gene expression
- Comprehensive variant interpretation and pathogenicity assessment
Who Should Consider This Genetic Test?
This specialized genetic testing is recommended for individuals presenting with:
- Unexplained neurological symptoms in infancy or childhood
- Developmental delays and cognitive impairment
- Seizure disorders unresponsive to conventional treatments
- Hypotonia (reduced muscle tone) and movement disorders
- Breathing difficulties and apnea episodes
- Family history of similar neurological conditions
- Normal serum glycine levels despite clinical suspicion of glycine encephalopathy
Clinical Benefits of Genetic Testing
Undergoing the SLC6A9 gene testing provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out glycine encephalopathy with normal serum glycine
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies for better outcomes
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your SLC6A9 gene status:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the SLC6A9 gene associated with glycine encephalopathy. This confirmation enables:
- Implementation of specific treatment protocols
- Regular monitoring for potential complications
- Family member testing recommendations
- Specialized neurological care coordination
Negative Result Interpretation
A negative result suggests that no disease-causing mutations were detected in the SLC6A9 gene. However, this may indicate:
- Need for additional genetic testing for other metabolic disorders
- Consideration of alternative neurological diagnoses
- Continued clinical monitoring as recommended by your physician
Variant of Uncertain Significance (VUS)
Some genetic changes may be classified as VUS, requiring:
- Additional family studies for clarification
- Ongoing research correlation
- Periodic re-evaluation as scientific knowledge advances
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing 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, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures easy access to this specialized genetic testing regardless of your location.
Take the Next Step Toward Answers
If you or your loved one is experiencing symptoms suggestive of glycine encephalopathy with normal serum glycine levels, don’t wait to get the answers you need. Our expert genetic counseling team is available to discuss your concerns and guide you through the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your SLC6A9 Gene Glycine Encephalopathy NGS Genetic DNA Test and take control of your health journey.
Important Pre-Test Information
Before scheduling your test, please ensure you have:
- Complete clinical history documentation
- Previous laboratory test results
- Family medical history information
- Referral from your healthcare provider (if required)
- Genetic counseling session scheduled to create a detailed family pedigree chart
Our dedicated team is committed to providing accurate, reliable genetic testing with comprehensive support throughout your diagnostic journey. Trust General Genetics Corporation for advanced metabolic disorder genetic analysis and personalized care.
