AUH Gene 3-Methylglutaconic Aciduria Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The AUH Gene 3-Methylglutaconic Aciduria Type 1 NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing rare metabolic disorders. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the AUH gene, which plays a critical role in leucine metabolism. 3-methylglutaconic aciduria type 1 is an autosomal recessive disorder characterized by the accumulation of 3-methylglutaconic acid and 3-methylglutaric acid in body fluids, leading to significant neurological and metabolic complications.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the AUH gene located on chromosome 9q22.31, which encodes the enzyme 3-methylglutaconyl-CoA hydratase. This test detects:
- Point mutations, deletions, and insertions in the AUH gene
- Pathogenic variants affecting enzyme function
- Carrier status for autosomal recessive inheritance
- Specific genetic markers associated with disease severity
- Novel mutations through comprehensive gene sequencing
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Unexplained neurological symptoms including seizures or developmental delay
- Metabolic acidosis episodes without clear cause
- Family history of 3-methylglutaconic aciduria or similar metabolic disorders
- Abnormal organic acid profiles in urine testing
- Unexplained lethargy, vomiting, or failure to thrive in infants
- Progressive neurological deterioration in childhood
- Consanguineous parentage with metabolic concerns
Key Benefits of Genetic Testing
Undergoing the AUH Gene 3-Methylglutaconic Aciduria Type 1 test provides numerous advantages:
- Early Diagnosis: Enables prompt intervention before irreversible neurological damage occurs
- Personalized Treatment: Guides specific dietary modifications and therapeutic approaches
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Disease Management: Helps monitor disease progression and treatment effectiveness
- Peace of Mind: Reduces diagnostic uncertainty and provides clear answers
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates the presence of pathogenic mutations in both copies of the AUH gene, confirming 3-methylglutaconic aciduria type 1 diagnosis
- Carrier Status: Identifies individuals with one mutated gene copy who are asymptomatic but can pass the condition to offspring
- Negative Result: Suggests absence of known pathogenic variants in the AUH gene
- Variant of Uncertain Significance: Requires additional family studies or functional analysis for clarification
All results are accompanied by detailed genetic counseling to ensure proper understanding and next steps.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have conveniently located testing centers across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Action for Your Health Today
Don’t let uncertainty about metabolic symptoms affect your quality of life. Our expert genetic counselors and medical professionals are ready to guide you through the testing process and provide comprehensive support. Early detection of 3-methylglutaconic aciduria type 1 can significantly improve long-term outcomes and quality of life.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test or speak with our genetic counseling team. Take the first step toward clarity and personalized healthcare.
