Pipecolic Acid, Serum or Plasma
Also known as: PIPECOL SP
Use
This test is primarily used for the diagnostic evaluation of peroxisomal disorders and/or pyridoxine responsive seizures. An elevated level of pipecolic acid in plasma or serum is a common biochemical marker in these conditions and can be used to support a diagnosis when evaluated alongside other clinical and laboratory findings.
Special Instructions
A fasting specimen is preferred for adults. For infants and children, the specimen should be drawn prior to feeding or 2-3 hours after a meal. It is important to submit clinical information such as age, gender, diet, drug therapy, and family history for appropriate result interpretation. This information can be submitted using the Biochemical Genetics Patient History Form.
Limitations
The test may be limited by the degradation of samples that have been exposed to more than two freeze/thaw cycles, which would render them unacceptable for testing. Additionally, results should be interpreted in conjunction with other clinical and laboratory findings to confirm any diagnosis related to peroxisomal disorders or pyridoxine responsive seizures.
Methodology
Mass Spectrometry
Biomarkers
LOINC Codes
- 32334-5
- 48767-8
Result Turnaround Time
4-12 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
0.5 mL
Minimum Volume
0.2 mL
Container
ARUP standard transport tube
Collection Instructions
Separate serum/plasma from cells immediately. Transfer to an ARUP standard transport tube and freeze immediately.
Patient Preparation
Adults should provide a fasting specimen; for infants and children, collect prior to feeding or 2-3 hours after a meal.
Storage Instructions
CRITICAL FROZEN. Separate specimens must be submitted when multiple tests are ordered.
Causes for Rejection
Samples exposed to more than two freeze/thaw cycles.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Unacceptable |
| Refrigerated | 24 hours |
| Frozen | 1 month |
