CTH Gene Cystathioninuria NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Health
The CTH Gene Cystathioninuria NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic disorders. This advanced test specifically targets the cystathionine gamma-lyase (CTH) gene, which plays a critical role in the transsulfuration pathway of sulfur amino acid metabolism. When mutations occur in this gene, they can lead to cystathioninuria, a rare inherited metabolic condition that affects the body’s ability to properly process sulfur-containing amino acids.
What Does This Test Measure?
Our sophisticated NGS-based analysis detects specific genetic variations in the CTH gene that are responsible for cystathioninuria. The test examines:
- Point mutations and single nucleotide variants in the CTH gene
- Insertions and deletions affecting gene function
- Regulatory region variations that impact gene expression
- Copy number variations that may disrupt normal metabolic pathways
Who Should Consider This Genetic Test?
This comprehensive genetic analysis is particularly important for individuals displaying symptoms or risk factors associated with cystathioninuria:
Clinical Indications and Symptoms
- Unexplained neurological symptoms including seizures or tremors
- Developmental delays in children and adolescents
- Family history of metabolic disorders or cystathioninuria
- Abnormal sulfur amino acid metabolism test results
- Unexplained intellectual disability or learning difficulties
- Metabolic acidosis episodes without clear cause
Key Benefits of CTH Gene Testing
Undergoing the CTH Gene Cystathioninuria NGS Genetic DNA Test provides numerous advantages for patients and healthcare providers:
Early Detection and Intervention
- Enables early diagnosis before severe symptoms develop
- Facilitates timely implementation of dietary modifications
- Allows for proactive management of potential complications
- Supports family planning decisions through genetic counseling
Personalized Treatment Planning
- Guides development of customized dietary restrictions
- Helps determine appropriate vitamin B6 supplementation
- Informs monitoring strategies for metabolic health
- Provides basis for long-term health management plans
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the CTH gene. This confirms a diagnosis of cystathioninuria and enables:
- Implementation of specific dietary modifications
- Regular monitoring of sulfur amino acid levels
- Potential vitamin B6 therapy if responsive
- Family member screening recommendations
Negative Result Interpretation
A negative result suggests that no disease-causing mutations were detected in the CTH gene. However, this doesn’t completely rule out metabolic concerns, and further evaluation may be recommended based on clinical presentation.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Metabolic Health Today
Don’t let uncertainty about metabolic health concerns affect your quality of life. Our CTH Gene Cystathioninuria NGS Genetic DNA Test provides the clarity needed for informed healthcare decisions. With results available in 3-4 weeks and comprehensive genetic counseling support, you’ll have the information necessary to manage your metabolic health effectively.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
