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, CSF (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):

LAB4032

Test Code:

CALGARY ZONE	BGLNON; IN BGL TEST NAME FIELD ENTER PIPECOLIC CSF
SOUTH ZONE (LETHBRIDGE)	PIPA
SOUTH ZONE (MEDICINE HAT)	PIPA1
OTHER ZONES	NOT SPECIFIED

Specimen Type:

Cerebral Spinal (Cerebrospinal) Fluid (CSF)

Primary Container:

Sterile container

Minimum Collection Volume:

0.25 mL

Specimen Collection Requirements:

Preference is to use second CSF collection vial with no visible blood contamination.

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:

Indicate CSF on label.
Freeze CSF specimen immediately.

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
Less than 14 days	< 0.12	µmol/L
14 days to 2 years	< 0.08	µmol/L
Over 2 years	< 0.04	µmol/L

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