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
New York DOH Approval Status
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
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
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