Diagnostic evaluation of pyridoxine responsive seizures.
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
It is preferable that collection and handling of specimens for testing follow Critical Frozen guidelines listed under Specimen Preparation and Storage/Transport Temperature fields. However, specimens that have not been treated as a critical frozen may still be acceptable for testing. Please refer to the information in the Stability field. If urine has been refrigerated for up to 24 hours; freeze the specimen immediately and submit for testing
Random urine. (first morning urine is preferred)
Transfer 1 mL urine to an ARUP Standard Transport Tube and freeze immediately. (Min: 0.3 mL)
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: 1 month (Avoid repeated freeze/thaw cycles)
|0 - 30 days||Less than or equal to 19.6 mmol/mol creatinine|
|1 - 5 months||Less than or equal to 12.1 mmol/mol creatinine|
|6 - 11 months||Less than or equal to 7.2 mmol/mol creatinine|
|Greater than 1 Year||Less than or equal to 1.2 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|
|2008135||Pipecolic Acid, Urine - Interpretation||48767-8|
- Alpha-aminoadipic semialdehyde, Urine
- Delta1-piperideine-6-carboxylate 1, Urine
- Delta1-piperideine-6-carboxylate 2, Urine
- Pipecolic Acid, Urine
- Urine pipecolic acid