HHH Syndrome Hyperornithinemia Hyperammonemia Homocitrullinuria Syndrome Test
Comprehensive Diagnostic Testing for Rare Metabolic Disorders
The HHH Syndrome Test represents a cutting-edge diagnostic approach for identifying Hyperornithinemia Hyperammonemia Homocitrullinuria Syndrome, a rare autosomal recessive disorder affecting the urea cycle. This sophisticated metabolic screening provides critical insights into one of the most complex inherited metabolic conditions, enabling early intervention and personalized treatment strategies.
What is HHH Syndrome?
HHH Syndrome is a rare inborn error of metabolism characterized by the triad of Hyperornithinemia (elevated ornithine levels), Hyperammonemia (excess ammonia in blood), and Homocitrullinuria (presence of homocitrulline in urine). This condition results from mutations in the SLC25A15 gene, which encodes the mitochondrial ornithine transporter. The disruption in ornithine transport impairs the urea cycle’s ability to detoxify ammonia, leading to potentially severe neurological consequences if left undiagnosed.
What Does the HHH Syndrome Test Measure?
Our comprehensive diagnostic panel utilizes state-of-the-art analytical techniques to detect and quantify key metabolic markers:
- Ornithine Levels: Quantitative measurement of plasma ornithine concentrations using LC-MS/MS technology
- Ammonia Assessment: Precise detection of blood ammonia levels to identify hyperammonemia
- Homocitrulline Detection: Advanced GC-MS analysis for homocitrulline presence in urine samples
- Additional Metabolic Markers: Comprehensive amino acid profiling to assess overall metabolic status
Who Should Consider HHH Syndrome Testing?
Clinical Indications and Symptoms
This specialized testing is recommended for individuals presenting with:
- Infants and Children: Unexplained neurological symptoms, developmental delays, or regression
- Metabolic Crisis Symptoms: Episodes of vomiting, lethargy, irritability, or altered consciousness
- Family History: Known cases of urea cycle disorders or unexplained infant deaths
- Developmental Concerns: Delayed milestones, learning difficulties, or intellectual disability
- Neurological Manifestations: Seizures, ataxia, spasticity, or movement disorders
Benefits of Early HHH Syndrome Detection
Timely diagnosis through our comprehensive testing protocol offers numerous advantages:
- Prevention of Neurological Damage: Early intervention prevents irreversible brain injury from ammonia toxicity
- Personalized Treatment Plans: Enables development of targeted dietary and medical management strategies
- Improved Developmental Outcomes: Early treatment supports normal cognitive and physical development
- Family Planning Guidance: Provides crucial genetic information for family members and future pregnancies
- Emergency Preparedness: Equips families and healthcare providers with essential information for metabolic crisis management
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive report provides detailed analysis and clinical interpretation:
- Normal Results: Indicates typical ornithine transport function and urea cycle activity
- Borderline Findings: May require additional testing or clinical correlation
- Abnormal Results: Elevated ornithine, ammonia, or homocitrulline levels suggest HHH Syndrome
- Clinical Correlation: Results are interpreted in context with clinical presentation and family history
- Follow-up Recommendations: Specific guidance for additional testing, specialist consultation, or treatment initiation
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $238 |
| Regular Price | $376 |
Test Specifications
- Turnaround Time: Sample accepted daily by 5 pm; Reports available within 5 days
- Sample Type: 15 mL (10 mL minimum) aliquot of random urine in sterile screw-capped container
- Shipping Requirements: Ship refrigerated or frozen
- Required Information: Brief clinical history must accompany sample
- Analytical Methods: LC-MS/MS and GC-MS technologies
Nationwide Testing Availability
GGC DNA maintains comprehensive testing facilities across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible, reliable testing services for patients nationwide.
Take Action for Metabolic Health
Early detection of HHH Syndrome can significantly impact long-term health outcomes and quality of life. Our specialized testing provides the diagnostic clarity needed for effective intervention and management strategies. Don’t wait for symptoms to progress – take control of metabolic health today.
Ready to schedule your HHH Syndrome Test? Contact our genetic specialists 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 our discounted rate of only $238 USD, comprehensive metabolic screening has never been more accessible. Protect neurological health and ensure optimal developmental outcomes with timely HHH Syndrome testing from GGC DNA – your trusted partner in genetic diagnostics.
