Primarily used for diagnosis and monitoring of patients with pyridoxine-dependent epilepsy. Can also aid in differential diagnosis of peroxisomal disorders, hyperlysinemia type 1, and sulfite oxidase/molybdenum cofactor deficiencies.
Quantitative Liquid Chromatography-Tandem Mass Spectrometry
Adults: Fasting specimen preferred.
Infants and Children: Draw specimen prior to feeding or 2-3 hours after a meal preferred.
Green (Sodium or Lithium Heparin), Lavender (EDTA), Plain Red, or Serum Separator Tube (SST).
Separate from cells ASAP or within 2 hours of collection. Transfer 0.5 mL serum or 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 two freeze/thaw cycles.
Clinical information is needed for appropriate interpretation. Submit age, gender, diet (eg., 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 at -20°C: 1 week; Frozen at -70°C: 1 year
|Age||Pipecolic Acid||Total AASA-P6C|
|0-12 months||Less than or equal to 5.2 umol/L||Less than or equal to 1.6 umol/L|
|Greater than 1 year||Less than or equal to 6.3 umol/L||Less than or equal to 3.1 umol/L|
Refer to report
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|2007407||Pipecolic Acid, Serum/Plasma||32334-5|
|2013353||Pyridoxine-Dependent Epilepsy Interp||48767-8|
|2013354||Total AASA-P6C, Serum/Plasma||92766-5|
- Alpha-aminoadipic semialdehyde, serum
- Delta1-piperideine-6-carboxylate, Serum
- Pipecolic Acid, Serum/Plasma