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Organic Acids Screen, Random, Urine
Test CodeOAUSC
Alias/See Also
Epic: LAB1059
Mayo: OAU
Mayo: OAU
CPT Codes
83919
Preferred Specimen
Specimen Type: Urine
Collection Container: Sterile container
Specimen Volume: 10 mL
Minimum Volume
4 mL
Instructions
- Collect a random urine specimen.
- No preservative.
- Patient's age is required.
- Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.
Transport Container
Sterile container
Specimen Stability
Room temperature: Unacceptable
Refrigerated: 14 days
Frozen: 416 days
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Methodology
Gas Chromatography Mass Spectrometry (GC-MS)
Setup Schedule
Monday through Saturday
Report Available
3 to 5 days
Reference Range
An interpretive report will be provided.
Clinical Significance
USEFUL FOR
Diagnosis of inborn errors of metabolism
HIGHLIGHTS
This test provides a qualitative report of abnormal levels of organic acids identified via gas chromatography mass spectrometry.
Diagnostic specificity of inborn errors of metabolism via urine organic acids analysis is variable due to factors such as specimen collection when the patient is asymptomatic versus acutely ill, taking dietary supplements, or anabolic versus catabolic status of the patient.
CLINICAL INFORMATION
Diagnosis of inborn errors of metabolism
HIGHLIGHTS
This test provides a qualitative report of abnormal levels of organic acids identified via gas chromatography mass spectrometry.
Diagnostic specificity of inborn errors of metabolism via urine organic acids analysis is variable due to factors such as specimen collection when the patient is asymptomatic versus acutely ill, taking dietary supplements, or anabolic versus catabolic status of the patient.
CLINICAL INFORMATION
Organic acids occur as physiologic intermediates in a variety of metabolic pathways. Organic acidurias are a group of disorders in which one or more of these pathways are blocked, resulting in a deficiency of normal products and an abnormal accumulation of intermediate metabolites (organic acids) in the body. These excess metabolites are excreted in the urine.
The incidence of individual inborn errors of organic acid metabolism varies from 1 in 10,000 to greater than 1 in 1,000,000 live births. Collectively, their incidence approximates 1 in 3000 live births. This estimate, however, does not include other inborn errors of metabolism (ie, amino acid disorders, urea cycle disorders, congenital lactic acidemias) for which diagnosis and monitoring may also require organic acid analysis. If all possible disease entities were included, the incidence of conditions where informative organic acid profiles could be detected in urine is likely to approach 1 in 1000 live births.
Organic acidurias typically present with either an acute life-threatening illness in early infancy or unexplained developmental delay with intercurrent episodes of metabolic decompensations in later childhood. A situation of severe and persistent metabolic acidosis of unexplained origin, elevated anion gap, and severe neurologic manifestations, such as seizures, should be considered strong diagnostic indicators of one of these diseases. The presence of ketonuria, occasionally massive, provides an important clue toward the recognition of disorders, especially in the neonatal period. Hyperammonemia, hypoglycemia, and lactic acidemia are frequent findings, especially during acute episodes of metabolic decompensations.
Performing Laboratory
Mayo Clinic Laboratories - Rochester
3050 Superior Drive NW
Rochester, MN 55901
Additional Information
Mayo Test Information
Last Updated: May 1, 2023
Last Review: N. Wolford, May 1, 2023