Organic Acid Screen - Urine
Use
This test offers qualitative analysis of organic acids in urine, designed to identify various inborn errors of organic acid metabolism. It is especially pivotal when these metabolic disorders are under consideration for diagnosis. Organic acid accumulation in the body often results from inherited metabolic blockages and typically manifests in infancy or childhood, leading to symptoms such as seizures, unexplained developmental delays, and persistent acidosis. Testing is critical for patients exhibiting signs such as vomiting, severe hypoglycemia, or sustained acidosis as it aids in early diagnosis and intervention, potentially improving outcomes.
Special Instructions
This test requires a random urine sample. It is essential to avoid adding preservatives. The specimen must be stored frozen at -20°C. Ensure the urine sample is sent promptly.
Limitations
While this test is efficient in identifying a broad spectrum of inborn errors, it may not detect all metabolic disorders and should be complemented with further testing for confirmation. Factors affecting urine composition can influence results, thus emphasizing the need for accurate collection and preservation methods. Some organic acids may be affected by diet and medications prior to testing, thereby necessitating specific patient preparation prior to collection. This test is part of a comprehensive diagnostic workup and should not be used in isolation for definitive disease diagnosis or exclusion.
Methodology
Mass Spectrometry
Biomarkers
Result Turnaround Time
6 days
Related Documents
For more information, please review the documents below
Specimen
Urine (Frozen)
Volume
3-5 cc
Minimum Volume
3 cc
Container
Insulated container on dry ice
Collection Instructions
Send random urine. Do not add preservatives. Store the specimen frozen at -20C.
Storage Instructions
Store frozen at -20C.
Causes for Rejection
Samples that are not frozen or contain preservatives will be rejected.
Stability Requirements
| Temperature | Period |
|---|---|
| Frozen | Specimen should remain frozen for testing. |
