Organic Acids Screen, Random, Urine
Use
This test is used for the diagnosis of inborn errors of metabolism via analysis of urine organic acids. These metabolic disorders often result in the accumulation of harmful organic acids due to enzyme deficiencies. The test provides a qualitative report of abnormal organic acids, aiding in identifying metabolic conditions that may not be apparent through clinical examination alone. This is particularly useful in cases where routine symptoms and lab results are atypical or inconclusive.
Special Instructions
The diagnostic specificity of this test may vary due to factors such as timing of specimen collection (e.g., asymptomatic versus acutely ill states), dietary intake (especially supplements), and the metabolic state of the patient (anabolic versus catabolic).
Limitations
The sensitivity and specificity of organic acids analysis can be influenced by preanalytical variables such as specimen handling and patient preparation. Additionally, some disorders may not be detected if the patient is in a non-acute phase or if dietary and metabolic conditions modify organic acid levels. It is important to interpret results in conjunction with clinical findings and other laboratory tests.
Methodology
Mass Spectrometry (GC-MS)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Urine
Volume
Not provided
Minimum Volume
Not provided
