Alberta Precision Laboratories

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Organization:

Alberta Precision Laboratories

Message Alert:

PLEASE NOTE: This Test Directory is in an interim state and due to changes pertaining to the DynaLIFE transition, performing site for routing has not been updated. Please refer to Laboratory Information System for appropriate routing.

Test Name/Synonym:

Pipecolic Acid, Urine (Synonyms: Pipecolinic acid, Peroxisomal Biogenesis Disorder, Zellweger Syndrome Spectrum, Pyridoxine-Dependent Epilepsy, PDE, Pyridoxine-Dependent Seizures, Antiquitin deficiency)

Clinical Indications:

For the investigation of peroxisomal biogenesis disorders, this test should be ordered in conjunction with Very Long Chain & Branched-Chain Fatty Acids.
For the investigation of pyridoxine-dependent seizures, the sensitivity of this test is known to be reduced by the length of time the patient is receiving pyridoxine prior to sample collection.

Test Includes:

Metabolite reported: Pipecolic Acid

Ordering Alert:

This test is considered specialty testing; this test will be cancelled if sufficient clinical justification is not provided.

LABID (Connect Care):

LAB4033A

Test Code:

CALGARY ZONE	BGLNON; IN BGL TEST NAME FIELD ENTER PIPECOLIC URINE
SOUTH ZONE	PIPAUR
OTHER ZONES	NOT SPECIFIED

Specimen Type:

Urine

Primary Container:

Sterile container

Alternate Containers:

Non sterile container

Minimum Collection Volume:

1.0 mL

Specimen Collection Requirements:

First morning void is preferred.
Collect a 5.0 to 10.0 mL random urine specimen.

Test Resources:

Submit request using the applicable requisition or Connect Care online order entry:

Biochemical Genetics Laboratory Requisition

Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.

Stability and Storage:

Frozen

Processing:

This test requires creatinine determination for result reporting. For sites using EPIC, a separate aliquot should be removed at the time of initial specimen receipt and sent to the EPIC-designated lab for creatinine testing.

One aliquot with primary container, or two separate aliquots, can be submitted. Write “urine” on all secondary aliquot tubes. Freeze container and/or tubes.

Transportation:

Transport frozen specimens on dry ice.
Samples must not thaw during transport.

Method:

Gas chromatography-mass spectrometry (GC-MS)

Method and Interpretation of Results:

Pipecolic acid is detected following derivatization (i.e., silylation) using a gas chromatography-mass spectrometry (GC-MS) stable isotope dilution (SID) method with a deuterium-labeled internal standard.

Pipecolic acid is elevated in peroxisomal biogenesis disorders but not in single peroxisomal enzyme deficiencies; therefore, this test in combination with Very Long-Chain & Branched-Chain Fatty Acids testing is useful in differentiating these two classes of peroxisomal diseases.

Increased pipecolic acid levels may also be seen in alpha-aminoadipic semialdehyde dehydrogenase deficiency (antiquitin deficiency, the main cause of pyridoxine-dependent epilepsy), hyperlysinemia types 1 and 2, and chronic liver disease.

Routine Turn Around Time:

30 days

Testing Schedule:

Monthly

Reference Interval:

Pipecolic Acid
Age Range	Normal Range	Units
0 to 1 month	< 19.8	nmol/mol creatinine
1 to 3 months	< 13.9	nmol/mol creatinine
3 to 12 months	< 7.3	nmol/mol creatinine
Over 12 months	< 1.0	nmol/mol creatinine

Testing Area:

Biochemical Genetics

Performing Site:

Alberta Children’s Hospital

Additional Test Information:

For priority turn-around contact Biochemical Genetics South Laboratory.

Contact Comments:

Biochemical Genetics South 403-955-7379

Last Updated On:

Monday, September 19, 2022

Date of Last Review:

Aug 1 2022 12:00AM