Diagnostic evaluation for peroxisomal disorders (in conjunction with very long chain fatty acids testing) and/or pyridoxine responsive seizures.
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Adults: Fasting specimen preferred.
Infants and children: Draw specimen prior to feeding or 2-3 hours after a meal.
Green (sodium or lithium heparin), lavender (EDTA), plain red, or serum separator tube.
Separate serum/plasma from cells immediately. Transfer 0.5 mL serum/plasma to an ARUP Standard Transport Tube and freeze immediately. (Min: 0.2 mL)
CRITICAL FROZEN. Separate specimens must be submitted when multiple tests are ordered.
Samples exposed to more than one freeze/thaw cycle.
Clinical information is needed for appropriate interpretation. Submit age, gender, diet (e.g.TPN therapy), drug therapy, and family history on a Biochemical Genetics Patient History Form available at www.aruplab.com/patienthistory or by contacting ARUP Client Services at (800) 522-2787.
After separation from cells: Ambient: Unacceptable; Refrigerated: 24 hours; Frozen: 1 month
Effective August 19, 2013
|0-12 months||Less than or equal to 5.2 umol/L|
|Greater than 1 year||Less than or equal to 6.3 umol/L|
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|2007407||Pipecolic Acid, Serum/Plasma||32334-5|
|2007408||Pipecolic Acid Ser/Plas Interpretation||48767-8|
- Alpha-aminoadipic semialdehyde, serum
- Delta1-piperideine-6-carboxylate, Serum
- Pipecolic Acid, Serum/Plasma