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HelpOrder Code PIPA Pipecolic Acid, Serum
Reporting Name
Pipecolic Acid, SUseful For
Differentiating between disorders of peroxisomal biogenesis (eg, Zellweger syndrome) and disorders with loss of a single peroxisomal function
Detecting abnormal elevations of pipecolic acid in serum
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
SerumNecessary Information
Patient's age is required.
Specimen Required
Patient Preparation: Fasting 12 hours or more. (Collect specimens from infants and small children just before next feeding)
Supplies: Sarstedt Aliquot Tube, 5 mL (T914)
Collection Container/Tube:
Preferred: Serum gel
Acceptable: Red top
Submission Container/Tube: Plastic vial
Specimen Volume: 1.5 mL
Collection Instructions: Centrifuge and aliquot serum into plastic vial.
Specimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Serum | Frozen (preferred) | 94 days |
| Refrigerated | 14 days |
Special Instructions
Reference Values
<6 months: ≤6.0 nmol/mL
6 months-<1 year: ≤5.9 nmol/mL
1-17 years: ≤4.3 nmol/mL
≥18 years: ≤7.4 nmol/mL
Day(s) Performed
Tuesday
CPT Code Information
82542
Genetics Test Information
In the newborn period, pipecolic acid levels are more likely to be abnormal in urine than in plasma or serum. Abnormal levels of pipecolic acid should be interpreted together with the results of other biochemical markers of peroxisomal disorders, such as plasma C22-C26 very long-chain fatty acids, phytanic acid, pristanic acid, red blood cell plasmalogens, and bile acid intermediates.
Method Description
Pipecolic acid is quantitated by a stable isotope dilution method; electron capture negative chemical ionization gas chromatography mass spectrophotometry of pentafluorobenzyl esters.(Kok RM, Kaster L, de Jong AP, et al. Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography. Clin Chim Acta. 1987;168:143-152, Kuhara t, Akiyama T, Ohse M, et al. Identification of new biomarkers of pyridoxine-dependent epilepsy by GC/MS-based urine metabolomics. Anal Biochem. 2020;604:113739. doi:10.1016/j.ab.2020.113739)
Reject Due To
| Gross hemolysis | OK |
| Gross lipemia | OK |
| Gross icterus | OK |
Method Name
Gas Chromatography Mass Spectrometry (GC-MS)
Testing Algorithm
For more information see Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.