Urea Cycle Disorder Panel Test
Short Name: UCD Panel
Also known as: UCD Panel, Urea Cycle Disorder Genetic Panel, Ammonia Metabolism Panel
Urea Cycle Disorder Panel Test test available at DNA Labs India for ₹10,000. Uses LC-MS/MS, GC/MS on Blood (Plasma) and Random Urine samples. Results in Reports are generally available within 5 days of sample receipt. A detailed clinical comment is included.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the Urea Cycle Disorder Panel is to confirm or rule out a urea cycle disorder in patients presenting with hyperammonemia or clinical features suggestive of a metabolic disorder. It also aids in identifying the specific enzyme deficiency involved, guiding treatment and genetic counseling.
- Test Code
- 3714
- CPT Code
- 81401
- ICD Code
- E72.2
- Price
- ₹10,000
- Sample Type
- Blood (Plasma) and Random Urine
- Result Time
- Reports are generally available within 5 days of sample receipt. A detailed clinical comment is included.
- Fasting Required
- No
- Method
- LC-MS/MS, GC/MS
Sample Collection
No fasting required, but clinical details and drug history must be provided. Collection can be done anytime during the day.
Method: Venipuncture and clean-catch urine collection
Laboratory Analysis
A single venipuncture for blood and a random urine sample in a sterile container are collected.
Report Delivery
Samples are transported refrigerated or frozen to the laboratory. No specific post-collection precautions for the patient.
Timeline: Reports are generally available within 5 days of sample receipt. A detailed clinical comment is included.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the Urea Cycle Disorder Panel is to confirm or rule out a urea cycle disorder in patients presenting with hyperammonemia or clinical features suggestive of a metabolic disorder. It also aids in identifying the specific enzyme deficiency involved, guiding treatment and genetic counseling.
How to Prepare
- Blood: collect 2 mL in Green Top (Sodium Heparin) tube; gently invert 8–10 times.
- Transfer plasma into a sterile screw-capped vial after centrifugation (if required).
- Urine: collect 10 mL random urine in a sterile screw-capped container. No preservative needed.
- Ship both samples refrigerated (2–8°C) or frozen (-20°C).
- Label samples with patient name, ID, date, and time of collection.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Urea cycle disorders are medical emergencies. Early diagnosis through this panel can guide life-saving dietary and pharmacological interventions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted plasma
- Urine received in inappropriate container or with preservative
- Unlabeled samples
- Samples >6 hours at room temperature without processing
Understanding Your Results
Low citrulline + elevated orotic acid in urine
Low citrulline + low orotic acid
High citrulline + elevated argininosuccinic acid
High citrulline + elevated orotic acid
Elevated arginine + orotic acid
Consult a metabolic specialist immediately if symptoms such as projectile vomiting, lethargy, seizures, or coma occur, especially after protein feeding, or if ammonia levels are elevated.
Limitations
- ⚠Biochemical panel may not detect all genetic mutations; gene sequencing is recommended for definitive molecular confirmation
- ⚠Diagnosis may require simultaneous enzyme assay or liver biopsy in inconclusive cases
- ⚠Reference ranges vary with age, sex, and laboratory methods; interpretation by a specialist is essential
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Fainting or dizziness during blood collection (rare)
Interfering Factors
- ●Recent protein load or high-protein diet before sample collection
- ●Prolonged fasting can affect ammonia and amino acid levels
- ●Sample hemolysis or delayed processing
- ●Use of certain medications (e.g., valproate) that can cause hyperammonemia
Compare With Similar Tests
| Test | Urea Cycle Disorder Panel Test | Urea Cycle Disorder Panel | Plasma Ammonia |
|---|---|---|---|
| Comparison | Urea Cycle Disorder Panel Test |
Frequently Asked Questions
What is the cost of the Urea Cycle Disorder Panel Test at DNA Labs India?
How is the Urea Cycle Disorder Panel Test performed?
Do I need to fast before the test?
How long does it take to get the results?
Which amino acids are tested in this panel?
Is the Urea Cycle Disorder Panel a genetic test?
What is the importance of early diagnosis of UCD?
Can this test be done on infants?
What if my child has had a previous episode of vomiting and lethargy? Should I consider this test?
Is home sample collection available for this test?
What is the sample stability for this test?
Are there any risks or side effects of this test?
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