2013355
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Pyridoxine-Dependent Epilepsy Panel, Urine

P-DEP U
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
Collect

Random urine. First morning urine is preferred.

Specimen Preparation

Transfer 1 mL urine to an ARUP standard transport tube and freeze immediately. (Min: 0.3 mL)

Storage/Transport Temperature

CRITICAL FROZEN (preferred). Refrigerated specimens are acceptable for testing if frozen within 24 hours from start of collection.

Unacceptable Conditions

Samples exposed to more than two freeze/thaw cycles.

Remarks

Clinical information is needed for appropriate interpretation. Additional required information includes age, gender, diet (e.g., TPN therapy), drug therapy, and family history. Biochemical Genetics Patient History Form is available on the ARUP Web site at https://www.aruplab.com/patienthistory or by contacting ARUP Client Services.

Stability

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 - 30 days Less than or equal to19.6 mmol/mol creatinine Less than or equal to 18.7 mmol/mol creatinine
1 - 5 months Less than or equal to 12.1 mmol/mol creatinine Less than or equal to 13.4 mmol/mol creatinine
6  - 11 months Less than or equal to 7.2 mmol/mol creatinine Less than or equal to 5.3 mmol/mol creatinine
Greater than 1 Year Less than or equal to 1.2 mmol/mol creatinine Less than or equal to 3.1 mmol/mol creatinine

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
2008132 Creatinine, Urine (Pipecolic) 2161-8
2008134 Pipecolic Acid, Urine 32335-2
2013356 Pyridoxine-Dependent Epilepsy Interp, Ur 48767-8
2013357 Total AASA-P6C, Urine
* 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, Urine
  • Delta1-piperideine-6-carboxylate 1, Urine
  • Delta1-piperideine-6-carboxylate 2, Urine
  • Pipecolic Acid, Urine
  • Urine pipecolic acid
Pyridoxine-Dependent Epilepsy Panel, Urine