Acylglycines, Quantitative, Random, Urine
Use
This test is useful for the diagnosis and monitoring of patients affected by inborn errors of metabolism, specifically fatty acid oxidation disorders and organic acidurias. It includes conditions such as glutaric acidemia type II, medium-chain acyl-CoA dehydrogenase deficiency, and multiple others. Patients with these conditions may present with metabolic crises, developmental delay, or other metabolic abnormalities.
Special Instructions
This test requires a random urine specimen. Physicians should ensure that patients follow any necessary preparation or collection instructions to ensure the accuracy of the test results.
Limitations
The test may not detect all potential inborn errors of metabolism. Specificity and sensitivity might vary for certain disorders. Interferences may occur if the specimen is not collected, stored, or processed according to instructions.
New York Approved
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
Collection Instructions
Collect a random urine sample. Ensure the sample is not contaminated.