2013352
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Pyridoxine-Dependent Epilepsy Panel, Serum or Plasma

P-DEP SP
Example Reports
Abnormal
Normal

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.

New York DOH Approval Status

This test is New York state 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

Methodology

Quantitative Liquid Chromatography-Tandem Mass Spectrometry

Performed

Fri

Reported

4-12 days

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

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