Pyridoxine-Dependent Epilepsy Panel, Serum or Plasma

2013352
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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

This test is New York DOH approved.

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

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

Interpretive Data

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.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

82542

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Components

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
* 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
Pyridoxine-Dependent Epilepsy Panel, Serum or Plasma