DHTKD1 Gene 2-Aminoadipic 2-Oxoadipic Aciduria NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The DHTKD1 Gene 2-Aminoadipic 2-Oxoadipic Aciduria NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing rare metabolic conditions. This advanced genetic analysis utilizes next-generation sequencing technology to identify mutations in the DHTKD1 gene, which plays a critical role in amino acid metabolism pathways. By detecting these genetic variations, healthcare providers can establish definitive diagnoses and develop targeted treatment strategies for patients with suspected metabolic disorders.
What This Test Measures and Detects
This sophisticated genetic test specifically analyzes the DHTKD1 gene for mutations that cause 2-aminoadipic 2-oxoadipic aciduria, a rare autosomal recessive metabolic disorder. The test examines:
- Complete DHTKD1 gene sequencing using NGS technology
- Point mutations, deletions, and insertions affecting gene function
- Variants that disrupt the mitochondrial 2-oxoadipate dehydrogenase complex
- Genetic markers associated with impaired lysine and tryptophan metabolism
- Inheritance patterns for family risk assessment
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of 2-aminoadipic 2-oxoadipic aciduria, including:
- Infants and children with unexplained neurological symptoms
- Patients with developmental delays or intellectual disability
- Individuals with metabolic acidosis or abnormal organic acid profiles
- Those with family history of metabolic disorders
- Patients with elevated 2-aminoadipic and 2-oxoadipic acid levels in urine
- Individuals experiencing muscle weakness, fatigue, or exercise intolerance
Key Benefits of DHTKD1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out 2-aminoadipic 2-oxoadipic aciduria with high precision
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt management to prevent disease progression
- Comprehensive Analysis: Utilizes advanced NGS technology for thorough genetic assessment
- Expert Support: Includes genetic counseling sessions with certified specialists
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and metabolic specialists. Results typically fall into three categories:
- Positive Result: Identifies pathogenic mutations in the DHTKD1 gene, confirming diagnosis of 2-aminoadipic 2-oxoadipic aciduria
- Negative Result: No disease-causing mutations detected, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
All results include detailed explanations and recommendations for next steps, including dietary modifications, monitoring protocols, and family testing considerations.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have conveniently located testing centers across the United States, including branches in 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 symptoms affect your quality of life. Our DHTKD1 Gene NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management of 2-aminoadipic 2-oxoadipic aciduria. With rapid turnaround times of 3-4 weeks and comprehensive genetic counseling included, you’ll receive the expert care and precise answers you deserve.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic testing appointment or book online through our secure patient portal. Our genetic specialists are ready to guide you through every step of the testing process and help you understand your results for better health outcomes.
