--- Query Results --- | |||||||||
| 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, Blood (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.
Minimum 4 hour fast recommended or as specified by physician. | ||||||||
| LABID (Connect Care): | LAB4031 | ||||||||
| Test Code: |
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| Specimen Type: | Blood | ||||||||
| Primary Container: | Green top – Sodium heparin (no gel) | ||||||||
| Alternate Containers: | Green top – Lithium heparin (no gel) Red top – Non-additive (no gel) | ||||||||
| Minimum Collection Volume: | 0.25 mL plasma or serum | ||||||||
| Specimen Collection Requirements: | Collect one Sodium heparin (or alternate) tube. Indicate length of fast on the requisition. | ||||||||
| Test Resources: | Submit request using the applicable requisition or Connect Care online order entry:
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| Stability and Storage: | Frozen: plasma or serum aliquot | ||||||||
| Processing: | For ALL collection locations except for Alberta Children’s Hospital (ACH): 1. Centrifuge; If red top tube is collected, allow to fully clot prior to centrifugation. 2. Transfer plasma or serum to aliquot tube. 3. Write "NaHep", "LiHep" or "Red Top" on the aliquot tube label. 4. Freeze aliquot tube. If collected at ACH outpatient Lab:
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| 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: |
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| 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 | ||||||||
