Home
HelpTest Code LAB3379 Pipecolic
Clinical System Name
Pipecolic Acid
Synonyms
Pipecolic
Sample Requirements
Specimen: Whole Blood
Container(s): Lavender/EDTA
Preferred Vol: 1 mL
Minimum Vol: 0.5 mL
Note: Heparinized plasma and serum are also acceptable specimen types.
Processing Instructions
Reject due to:
Spin:Y
Aliquot:Y
Temp:-20 C
Storage location: -20 C BCG Box
Off-site collection: Spin and freeze aliquoted plasma. Ship frozen.
Stability
| Temperature | Time |
|---|---|
| Room temp | ≤ 1 hr |
| Refrigerated | 24 hrs |
| Frozen (Plasma/Serum only) | 1 month |
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | 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
Department: Biochemical Genetics
Phone Number: 206-987-2216
CPT Codes
82542
Methodology
Method: LC-MS/MS
Analytical Volume: 0.25 mL
Limitations:
Reference Range
| Age | mcmol/L |
|
< 1 week |
0.1 - 10 |
| 1 wk - 1 mo | 0.1 - 5.3 |
| >/= 1 month | 0.1 - 4.2 |
Description
Quantitation of pipecolic acid by LC-MS/MS
Requisition
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.