--- Query Results ---

Program:Genetics and Genomics
Test Name:Pipecolic Acid (G&G South ACH)
Test Code:PIP-P, PIP-S, PIP-U, PIP-C
Performing Site: Alberta Children's Hospital
Performing Dept:Biochemical Genetics
Availability:Test is performed on a monthly basis.
TAT:30 days
Preferred Tube/Container:Sodium heparin (dark green - NOT PST)
Alternate:Lithium heparin (dark green - NOT PST)
Non-additive (red top - NOT SST)
Random specimen: plain urine container
Sterile plastic screw-cap vial for Cerebrospinal Fluid
Specimen Requirements:For Blood Samples:
1. Collect 1 x 4.0 mL sodium heparin tube (or alternate tube type).
2. Collect following a minimum four-hour fast; or just before next feed for newborns.
3. Indicate length of fast, or time of last feeding on the requisition (with collection time).

For Urine Samples:
Collect a 5 to 10 mL random urine sample.

For CSF Sample
Preference is to use second CSF collection vial with no visible blood contamination.
Min. Sample Required:0.25 mL plasma or serum, 1.0 mL urine, 0.25 mL CSF
Specimen Processing:For Blood Samples:
At ACH only
The primary heparinized tube can be put on ice (ensure not to freeze sample) or refrigerated for routine pick-ups between 8:30 am – 2:30 pm, Monday through Friday.

For all other collections
1. Centrifuge.
2. Transfer plasma or serum to aliquot tube.
3. Write "NaHep", "LiHep" or "Red Top" on the aliquot tube label.
4. Freeze.

For Urine Samples:
1. If specimen is transferred to secondary aliquot tube, write "urine" on label.
2. Freeze.

For CSF Samples:
1. Indicate specimen type on label.
2. Freeze.
Specimen Handling:Transport frozen samples on ice. Samples must not thaw during transport.
Additional Information:Samples will be rejected if:
  • Primary blood tube not refrigerated
  • Primary CSF tube(s) not kept on ice
  • Primary urine container not refrigerated or frozen
  • Aliquot tube received thawed
  • Tube type not written on aliquot tube label
    Requisition/Form:Submit request using Biochemical Genetics Laboratory Requisition.
    Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.
    Order Restrictions:This test is considered specialty testing; this test will be cancelled if sufficient clinical justification is not provided.
    Indications:For the investigation of peroxisomal biogenesis disorders, this test should be ordered in conjunction with Very Long Chain & Branched-Chain Fatty Acids (ACH)

    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.
    Method: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.
    Method Details: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 (pyridoxine-dependent epilepsy), hyperlysinemia types 1 and 2, and defects of proline metabolism.
    Reference Interval:
    Plasma/Serum Pipecolic Acid          <4.2   µmol/l

    Urine Pipecolic Acid        (0-1 month)  <19.8  nmol/mol creatinine
    Urine Pipecolic Acid        (1-3 months)  <13.9  nmol/mol creatinine
    Urine Pipecolic Acid        (3-12 months)  <7.3  nmol/mol creatinine
    Urine Pipecolic Acid        (>12 months)  <1.0  nmol/mol creatinine

    CSF Pipecolic Acid        (<14 days)  <0.12  µmol/l
    CSF Pipecolic Acid        (14 days-2 years)  <0.08  µmol/l
    CSF Pipecolic Acid        (>2 years)  <0.04  µmol/l
    Comments:Contact ACH Biochemical Genetics Laboratory (403-955-7379) for priority turn-around.
    Last Updated On:Tuesday, May 22, 2018
    Date of Last Review:Jan 2 2018 12:00AM