Diagnostic evaluation of patients with possible organic acidemias, fatty acid oxidation disorders, and other conditions.
Gas Chromatography-Mass Spectrometry (GC-MS)
Random urine. Avoid dilute urine when possible.
Transfer 9 mL urine to ARUP Standard Tubes and freeze immediately. (Min: 3mL- for volumes less than 3mL, contact the Biochemical Genetics Lab before sending the specimen) Avoid dilute urine when possible.
CRITICAL FROZEN. Separate specimens must be submitted when multiple tests are ordered.
Clinical information is needed for appropriate interpretation. Additional required information includes age, gender, diet (e.g., TPN therapy), drug therapy, and family history. Biochemical Genetics Patient History Form is available on the ARUP Web site at https://www.aruplab.com/patienthistory or by contacting ARUP Client Services.
Ambient: Unacceptable; Refrigerated: Unacceptable; Frozen: 1 month
Reports include age appropriate reference intervals and interpretation.
Compliance Statement B: For laboratory developed tests not using a RUO kit, and for FDA approved, cleared or 510(k) exempt assays with alterations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.
Certain analytes will be reported only if present at clinically significant concentrations (elevated). Client may request special reporting of an analyte of interest by one of the following methods: transmitting an ORDER COMMENT; faxing the request on the form, Patient History for Biochemical Genetics; or by contacting an ARUP Genetic Counselor at (800) 242-2787 extension 2141.
|Component Test Code*||Component Chart Name||LOINC|
|0081026||Lactic Acid, Urine||25112-4|
|0081027||Pyruvic Acid, Urine||25132-2|
|0081028||Succinic Acid, Urine||25136-3|
|0081029||2-Ketoglutaric Acid, Urine||29507-1|
|0081030||Fumaric Acid, Urine||25101-7|
|0081031||Methylmalonic Acid, Urine||25116-5|
|0081032||3-OH-Butyric Acid, Urine||29509-7|
|0081033||Acetoacetic Acid, Urine||29524-6|
|0081034||2-Keto-3-methylvaleric Acid, Urine||25083-7|
|0081035||2-Ketoisocaproic Acid, Urine||25084-5|
|0081036||2-Ketoisovaleric Acid, Urine||25085-2|
|0081037||Ethylmalonic Acid, Urine||25099-3|
|0081038||Adipic Acid, Urine||29859-6|
|0081039||Suberic Acid, Urine||25135-5|
|0081040||Sebacic Acid, Urine||25134-8|
|0081041||4-OH-phenylacetic Acid, Urine||25088-6|
|0081042||4-OH-phenyllactic Acid, Urine||25089-4|
|0081043||4-OH-phenylpyruvic Acid, Urine||29519-6|
|0095241||Organic Acids, Urine Interpretation||33477-1|