Pyridoxine-Dependent Epilepsy Panel, Urine
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.

Quantitative Liquid Chromatography-Tandem Mass Spectrometry
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
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. 
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 or by contacting ARUP Client Services. 
Ambient: Unacceptable; Refrigerated: 24 hours; Frozen at -20°C: 1 week; Frozen at -70°C: 1 year 
Reference Interval
Pipecolic Acid
Total AASA-P6C
0 - 30 daysLess than or equal to19.6 mmol/mol creatinineLess than or equal to 18.7 mmol/mol creatinine
1 - 5 monthsLess than or equal to 12.1 mmol/mol creatinineLess than or equal to 13.4 mmol/mol creatinine
6  - 11 monthsLess than or equal to 7.2 mmol/mol creatinineLess than or equal to 5.3 mmol/mol creatinine
Greater than 1 YearLess than or equal to 1.2 mmol/mol creatinineLess than or equal to 3.1 mmol/mol creatinine

Interpretive Data
Refer to report.

Compliance Statement B: For laboratory developed tests not using a RUO kit, and for FDA approved, cleared or 510(k) exempt assays with alterations. 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.

Hotline History
Component Test Code*Component Chart NameLOINC
2008132Creatinine, Urine (Pipecolic)2161-8
2008134Pipecolic Acid, Urine32335-2
2013356Pyridoxine-Dependent Epilepsy Interp, Ur
2013357Total 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.
  • Alpha-aminoadipic semialdehyde, Urine
  • Delta1-piperideine-6-carboxylate 1, Urine
  • Delta1-piperideine-6-carboxylate 2, Urine
  • Pipecolic Acid, Urine
  • Urine pipecolic acid