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
Random urine. First morning urine is preferred.
Transfer 1 mL urine to an ARUP Standard Transport Tube and freeze immediately. (Min: 0.3 mL)
CRITICAL FROZEN (preferred). Refrigerated specimens are acceptable for testing if frozen within 24 hours from start of collection.
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 https://www.aruplab.com/patienthistory or by contacting ARUP Client Services.
Ambient: Unacceptable; Refrigerated: 24 hours; Frozen at -20°C: 1 week; Frozen at -70°C: 1 year
|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|
Refer to report.
Laboratory Developed Test (LDT)
|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|
|2013357||Total AASA-P6C, Urine|
- Alpha-aminoadipic semialdehyde, Urine
- Delta1-piperideine-6-carboxylate 1, Urine
- Delta1-piperideine-6-carboxylate 2, Urine
- Pipecolic Acid, Urine
- Urine pipecolic acid