Organic Acid Profile, Quantitative and Qualitative, Urine

As of March 1, 2015, quantitative results for the following organic acids will not be included in the report: 3-methylglutaric acid, adipic acid, suberic acid, sebacic acid, 4-hydroxyphenylacetic acid. This is only a change in the appearance of the reports. It will not change the scope of conditions that are detected by this assay. Organic acid reports will also report the presence or absence of: succinylacetone, N-acetylaspartic acid. If you have any questions, please contact the Biochemical Genetics Laboratory at 470-378-2200 or 855-831-7447.

Condition Description

Symptoms of lethargy, coma, hypotonia, seizures, ataxia, vomiting, failure to thrive, metabolic acidosis, etc., may suggest abnormalities of organic acid metabolism. Qualitative and quantitative determination of organic acids is performed by gas chromatography/mass spectrometry. This includes lactic and pyruvic acids.

Genes (0)

Indications

This test is indicated for:

  • Infants with a positive newborn screening result indicative of a metabolic disorder.
  • Evaluation of patients with signs of a possible metabolic condition, such as lethargy, vomiting, and failure to thrive.
  • Monitoring for individuals diagnosed with a metabolic condition.

Methodology

Qualitative and quantitative determination performed by gas chromatography/mass spectrometry.

Detection and Reference Range

Detection

Test results can be influenced by the age and eating status of the patient. A second test (amino acids analysis/acylcarnitine profile) is typically required to confirm a diagnosis.

Reference Range

Click here for reference range.

Specimen Requirements

When sample fails to meet the acceptable criteria, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (eglgc@egl-eurofins.com).
Submit only 1 of the following specimen types
Urine
URN

Requirements
Clean container without additives
2-5 ml
Freeze sample. Fasting or first void sample is preferable.
Collection and Shipping
Ship frozen sample on dry ice with overnight delivery.

Special Instructions

Please indicate any medications or dietary changes on the test requisition form.

Amino Acids Quantitative Analysis (AA) and Acylcarnitine Profile (AR) - Plasma are used in the diagnosis and evaluation of patients with metabolic conditions.

How to Order