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Test Code Pipecolic Pipecolic

Clinical System Name

Pipecolic Acid


Quantitation of pipecolic acid by LC-MS/MS

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender/EDTA

Preferred Vol:  1 mL

Minimum Vol: 0.5 mL


Note: Heparinized plasma is also acceptable


Processing Instructions

Reject due to:



Temp:-20 C

Storage location: -20 C BCG  Box


Off-site collection: Spin and freeze aliquoted plasma. Ship frozen.


Temperature Time
Room temp ≤ 1 hr
Refrigerated 24 hrs
Frozen (Plasma/Serum only) 1 month



STAT Performed TAT
N Bi-weekly up to 2 weeks


Contact the Biochemical Genetics Lab for requests outside of stated availability (206)987-2216.

Performing Laboratory

Seattle Children's Laboratory    


Department:  Biochemical Genetics

Phone Number: 206-987-2216



Reference Range

Age mcmol/L

< 1 week

0.1 - 10
1 wk - 1 mo 0.1 - 5.3
>/= 1 month 0.1 - 4.2



Method: LC-MS/MS

Analytical Volume: 0.25 mL


CPT Codes



Biochemical Genetics Requisition


On the requisition include clinical information needed for appropriate interpretation.  (Age, gender, diet (e.g. TPN therapy), drug therapy and family history)

Clinical Utility

Pipecolic acid (PA) is an adjunct to other biomarkers of peroxisomal diseases such as VLCFA, phytanic acid, and RBC plasmalogens. PA is elevated in Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum (PBD,ZSS), which includes Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. PBD,ZSS are progressive diseases that may be characterized by hypotonia, poor feeding, distinctive facial features, seizures, liver dysfunction, liver cysts, retinal dystrophy, and sensorineural hearing loss. Elevated PA can also be present in non-peroxisomal disorders such as pyridoxine dependent seizures and with liver disease. An isolated elevation of PA may not be specific for a peroxisomal disorder.