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Pyridoxine-Dependent Epilepsy Panel, Serum or Plasma
2013352
Ordering Recommendation

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.

Mnemonic
P-DEP SP
Methodology
Quantitative Liquid Chromatography-Tandem Mass Spectrometry
Performed
Fri
Reported
4-12 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Submit With Order
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Adults: Fasting specimen preferred.
Infants and Children: Draw specimen prior to feeding or 2-3 hours after a meal preferred. 
Collect
Green (Sodium or Lithium Heparin), Lavender (EDTA), Plain Red, or Serum Separator Tube (SST). 
Specimen Preparation
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) 
Storage/Transport Temperature
CRITICAL FROZEN. Separate specimens must be submitted when multiple tests are ordered. 
Unacceptable Conditions
Samples exposed to more than two freeze/thaw cycles. 
Remarks
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. 
Stability
After separation from cells: Ambient: Unacceptable; Refrigerated: 24 hours; Frozen at -20°C: 1 week; Frozen at -70°C: 1 year 
Reference Interval
AgePipecolic AcidTotal AASA-P6C
0-12 monthsLess than or equal to 5.2 umol/LLess than or equal to 1.6 umol/L
Greater than 1 yearLess than or equal to 6.3 umol/LLess than or equal to 3.1 umol/L

Interpretive Data
Refer to report

Compliance Statement B: 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.

Note
CPT Code(s)
82542
Components
Component Test Code*Component Chart NameLOINC
2007407Pipecolic Acid, Serum/Plasma32334-5
2013353Pyridoxine-Dependent Epilepsy Interp
2013354Total AASA-P6C, Serum/Plasma
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • Alpha-aminoadipic semialdehyde, serum
  • Delta1-piperideine-6-carboxylate, Serum
  • Pipecolic Acid, Serum/Plasma