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  • Test of Urine Organic Acids

Test of Urine Organic Acids

Test of Urine Organic Acids
Test code: UO
Test Inquiry
Test code: UO
Test Inquiry

Test of Urine Organic Acids

Detecting urine organic acids by GC-MS/MS.
View test information
Test Code UO
Test Summary Detecting urine organic acids by GC-MS/MS.
Turn Around Time 5 days
Acceptable Sample Types Urine Filter Paper
NY Approved No
Accreditations EQA
*TAT starts after the sample and all required sample information is received at the processing laboratory.

**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.

This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.
Test code: UO
Download PDF Version
This test is not available in your region Japan, please select your nearest laboratory to request more information.
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Test information

  • Test description
  • Indications for testing
  • Condition description
  • Test methods and limitations
  • Detailed sample requirements

Test description

The analysis of urine organic acids by gas chromatography-mass spectrometry (GC-MS) can detect >130 analytes, and assists in the diagnosis of many inherited metabolic diseases. Urine organic acid testing is useful in the diagnosis and monitoring of patients with inborn errors of organic acid metabolism, inborn errors of amino acid metabolism, urea cycle defects, and defects of the mitochondrial respiratory chain. Organic acid analysis may fail to detect certain disorders that are characterized by minimal or intermittent metabolite excretion.

Indications for testing

  • Neonatal genetic metabolic disease screening results are abnormal.
  • Children and adults with suspected inherited metabolic diseases.

Condition description

Organic acidemia is a term used to classify a group of metabolic disorders that disrupt normal amino acid metabolism, particularly branched-chain amino acids, causing a buildup of acids that are usually not present. The four main types of organic acidemia are: methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease. Most of the organic acidemias result from defective autosomal genes for various enzymes important to amino acid metabolism. Organic acidemias are usually diagnosed in infancy, characterized by urinary excretion of abnormal amounts or types of organic acids. These disorders vary in their prognosis, from manageable to fatal, and usually affect more than one organ system, especially the central nervous system. Neurological damage and developmental delay are common factors in diagnosis, with associated symptoms ranging from poor feeding to slow growth, lethargy, vomiting, dehydration, malnutrition, hypoglycemia, hypotonia, metabolic acidosis, ketoacidosis, hyperammonemia, and if left untreated, death.

Test methods and limitations

Gas chromatography–mass spectrometry (GC–MS) is an analytical method that combines the features of gas-chromatography and mass spectrometry to identify different substances within a test sample.

Detailed sample requirements

How To Order

Step 1
Choose Your Test

Select the correct test for your patient, and download and fill out the Clinical Genomics test requisition form.

Step 2
Collect Sample

Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs.
 

Step 3
Send Samples

Send samples and all required forms back to Revvity for processing using pre-paid shipping label.

Learn More

1. Build Your Custom Panel

Complete the Genomics Gene Tool Form, and a unique test code will be generated for you.

 

2. Complete and print the test requisition

Complete & print the test requisition.

Ensure that:

  • You entered your unique test code from the Genomics Gene Tool
  • All sections are complete
  • Your patient has signed an informed consent
     

3. Collect and Send Patient Sample

Collect patient sample.

  1. Obtain a sample for testing from the patient and confirm that the sample is correctly labeled with the patient's name and date of birth.
  2. Note: if you do not have a Revvity Omics kit available in your office, please email or call us at 1-866-354-2910.

Send patient sample.

Ship your test kit back using the pre-paid shipping label. Remember to include:

✔   Patient sample

✔   Completed informed consent

✔   Test requisition form

✔   Any applicable medical records or clinical notes
 

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