GLYCTK Gene D-Glyceric Aciduria NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The GLYCTK Gene D-Glyceric Aciduria NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing rare inherited metabolic conditions. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing technology to identify mutations in the GLYCTK gene, which plays a critical role in normal metabolic function. D-glyceric aciduria is an autosomal recessive disorder characterized by the body’s inability to properly metabolize certain amino acids, leading to the accumulation of toxic substances that can affect neurological development and overall health.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets:
- Mutations in the GLYCTK gene responsible for encoding enzymes involved in serine metabolism
- Genetic variants that disrupt the conversion of hydroxypyruvate to D-glycerate
- Pathogenic changes leading to impaired mitochondrial function
- Inheritance patterns through autosomal recessive genetic transmission
- Specific nucleotide changes, deletions, insertions, and copy number variations
Who Should Consider This Test
This genetic screening is recommended for individuals presenting with:
- Unexplained neurological symptoms including seizures or developmental delays
- Metabolic acidosis episodes without clear cause
- Family history of D-glyceric aciduria or similar metabolic disorders
- Infants or children with failure to thrive and metabolic abnormalities
- Elevated D-glyceric acid levels in urine organic acid analysis
- Consanguineous parentage or known carrier status in family members
Key Benefits of Genetic Testing
- Early Diagnosis: Enables prompt intervention before significant neurological damage occurs
- Personalized Treatment: Guides targeted therapeutic approaches based on specific genetic findings
- Family Planning: Provides crucial information for reproductive decision-making
- Proactive Management: Allows for monitoring and preventive care strategies
- Accurate Prognosis: Helps predict disease progression and potential complications
- Reduced Diagnostic Odyssey: Minimizes unnecessary testing and medical procedures
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and medical geneticists. A positive result indicates the presence of pathogenic mutations in the GLYCTK gene, confirming the diagnosis of D-glyceric aciduria. This information enables your healthcare team to develop a comprehensive management plan that may include dietary modifications, medication adjustments, and specialized monitoring. A negative result suggests that the tested individual does not carry the specific mutations analyzed, though it does not completely rule out other genetic or metabolic conditions. Inconclusive results may require additional testing or family member analysis for complete interpretation.
Test Pricing and Availability
| 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
Pre-Test Preparation
Before undergoing the GLYCTK Gene D-Glyceric Aciduria NGS Genetic DNA Test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss implications and expectations
- Development of a detailed pedigree chart mapping affected family members
- Discussion of potential outcomes and their impact on medical management
- Informed consent process ensuring complete understanding of test limitations and benefits
Nationwide Testing Availability
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 genetic counselors and medical professionals ensures consistent, high-quality care regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic disorders affect your quality of life. The GLYCTK Gene D-Glyceric Aciduria NGS Genetic DNA Test provides the clarity needed for informed medical decisions and proactive health management. Our team of genetic specialists is ready to guide you through every step of the testing process, from initial consultation to result interpretation and follow-up care.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Early detection through genetic testing can make a significant difference in managing metabolic conditions and improving long-term health outcomes.
