Urea Cycle Disorder Panel Test – Comprehensive Genetic Metabolic Analysis
Understanding Urea Cycle Disorders
Urea cycle disorders represent a group of rare genetic conditions that impair the body’s ability to remove ammonia, a toxic byproduct of protein metabolism. The urea cycle is a critical biochemical pathway occurring primarily in the liver, where ammonia is converted into urea for safe excretion through urine. When this cycle malfunctions due to enzyme deficiencies, ammonia accumulates in the bloodstream, potentially causing severe neurological damage, coma, or even death if left untreated.
What This Test Measures and Detects
Our comprehensive Urea Cycle Disorder Panel employs cutting-edge analytical techniques including Liquid Chromatography-Mass Spectrometry (LC-MS/MS) and Gas Chromatography-Mass Spectrometry (GC/MS) to evaluate:
- Key urea cycle enzymes and their activity levels
- Ammonia concentration in plasma samples
- Amino acid profiles including citrulline, arginine, and ornithine
- Organic acid metabolites indicative of metabolic dysfunction
- Genetic markers associated with urea cycle enzyme deficiencies
Who Should Consider This Test?
This specialized genetic panel is recommended for individuals presenting with symptoms suggestive of urea cycle dysfunction:
- Infants and children with unexplained lethargy, vomiting, or feeding difficulties
- Patients experiencing recurrent episodes of hyperammonemia
- Individuals with developmental delays or neurological regression
- Family history of urea cycle disorders or sudden infant death syndrome
- Adults with late-onset psychiatric symptoms or cognitive decline
- Newborns with abnormal newborn screening results
Clinical Indications and Symptoms
Early recognition of urea cycle disorders is crucial for preventing permanent neurological damage. Common clinical presentations include:
- Progressive neurological deterioration in previously healthy individuals
- Episodic ataxia, seizures, or altered mental status
- Protein intolerance and aversion to high-protein foods
- Unexplained coma or encephalopathy
- Developmental plateau or regression in children
Benefits of Urea Cycle Disorder Testing
Early diagnosis through comprehensive genetic testing offers numerous advantages:
- Prevention of Neurological Damage: Timely intervention prevents ammonia-induced brain injury
- Personalized Treatment Plans: Enables targeted dietary modifications and medication regimens
- Family Planning Guidance: Provides crucial information for genetic counseling
- Improved Quality of Life: Proper management allows normal development and functioning
- Crisis Prevention: Identifies triggers and prevents metabolic decompensation
Understanding Your Test Results
Our comprehensive report provides detailed interpretation of your results:
- Normal Results: Indicates typical urea cycle function with no detected enzyme deficiencies
- Borderline Findings: May suggest carrier status or mild enzyme deficiencies requiring monitoring
- Abnormal Results: Confirms specific urea cycle disorder diagnosis with enzyme identification
- Follow-up Recommendations: Includes guidance for additional testing, dietary management, and specialist consultation
All results are reviewed by board-certified geneticists and metabolic specialists to ensure accurate interpretation and appropriate management recommendations.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Urea Cycle Disorder Panel Test | $250 USD | $376 USD |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our state-of-the-art laboratories ensure consistent, reliable results regardless of testing location.
Sample Collection and Processing
Sample Requirements:
- 10 mL (5 mL minimum) aliquot of random urine in sterile screw-capped container (no preservative required)
- 2 mL (1 mL minimum) plasma from 1 Green Top (Sodium Heparin) tube
- Transfer plasma into sterile screw-capped vial
- Ship refrigerated or frozen
Important: Clinical details and complete drug history must accompany all samples to ensure accurate interpretation.
Turnaround Time
Samples received daily by 5:00 PM | Reports delivered within 5 business days
Take Control of Your Metabolic Health
Don’t let unexplained symptoms compromise your quality of life. Our Urea Cycle Disorder Panel provides the definitive answers you need for proper diagnosis and management. With advanced LC-MS/MS and GC/MS technology, comprehensive analysis, and expert interpretation, you can trust our testing for accurate, reliable results.
Ready to schedule your test? Call or WhatsApp us today at +1(267) 388-9828 to book your appointment or speak with our genetic counseling team.
Our dedicated specialists are available to answer your questions, discuss testing options, and provide guidance throughout the testing process. Take the first step toward understanding your metabolic health with confidence and clarity.
