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Pipecolic Acid, S
Clinical Genetic Test
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offered by
Mayo Clinic Laboratories
View lab's test page
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GTR Test Accession: Help GTR000613065.2
NERVOUS SYSTEMSYNDROMIC DISEASEINHERITED DISEASE ... View more
Last updated in GTR: 2024-05-07
View version history
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Peroxisome biogenesis disorder
Analytes (1): Help
Pipecolic acid
Methods (1): Help
Biochemical Genetics - Analyte: Gas chromatography–mass spectrometry (GC-MS)
Target population: Help
Differentiating between disorders of peroxisomal biogenesis (eg, Zellweger syndrome) and …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Mayo Clinic Laboratories
View lab's website
View lab's test page
Test short name: Help
PIPA
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Test Order Code: Help
PIPA
View other test codes
LOINC codes: Help
**LOINC codes notice
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Lab contact: Help
Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
biochemicalgenetics@mayo.edu
1-800-533-1710
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
https://www.mayocliniclabs.com/test-catalog/overview/81326#Specimen
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Analyte
Gas chromatography–mass spectrometry (GC-MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M. Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016;117(3):313-21. doi:10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23. PMID: 26750748.

Target population: Help
Differentiating between disorders of peroxisomal biogenesis (eg, Zellweger syndrome) and disorders with loss of a single peroxisomal function. Detecting abnormal elevations of pipecolic acid in serum.
View citations (4)
  • Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders. Peduto A, et al. Mol Genet Metab. 2004;82(3):224-30. doi:10.1016/j.ymgme.2004.04.010. PMID: 15234336.
  • Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M. Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016;117(3):313-21. doi:10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23. PMID: 26750748.
  • Gartner J, Rosewich H, Thoms S: The peroxisome biogenesis disorders. In: Valle D, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill Medical; 2019. Accessed May 18, 2021. Available at www.ommbid.com
  • Wanders RJA, Barth PG, Heymans HAS: Single peroxisomal enzyme deficiencies. In: Valle D, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill Medical; 2019. Accessed May 18, 2021. Available at www.ommbid.com
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
N/A

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided. N/A
Research:
Is research allowed on the sample after clinical testing is complete? Help
N/A
Recommended fields not provided:
Clinical validity, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Pipecolic acid is quantitated by a stable isotope dilution method; electron capture negative chemical ionization gas chromatography-mass spectrophotometry of pentafluorobenzyl esters.(Kok RM, Kaster L, de Jong AP, et al: Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass … View more
View citations (1)
  • Kuhara T, Akiyama T, Ohse M, Koike T, Shibasaki J, Imai K, Cooper AL. Identification of new biomarkers of pyridoxine-dependent epilepsy by GC/MS-based urine metabolomics. Anal Biochem. 2020;604:113739. doi:10.1016/j.ab.2020.113739. Epub 2020 Apr 24. PMID: 32339489.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Proficiency testing was used to assess accuracy and was acceptable. Intra assay precision was performed at 2 levels: CV results were 2.9% and 3.9% (N=10 each). Inter assay precision was performed at 2 levels: CV results were 3.5% and 5.9% (N=5 each). The analytical measurement range is 0.044 – 49.52 … View more
Assay limitations: Help
Newborns with disorders of peroxisomal biogenesis often have normal levels of pipecolic acid that increase with age. Abnormal results may reflect either prematurity or nongenetic liver and/or renal disease. Vigabatrin interferes with pipecolic acid determination. Methylmalonic acid interferes with pipecolic acid determination.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Research Network for the Evaluation and Improvement of Screening Diagnosis and Treatment of Inherited Metabolic Disorders - External Quality Assessment Schemes, ERNDIM EQAS

Description of PT method: Help
Formal PT program

Description of internal test validation method: Help
This test was laboratory developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements.
VUS:
Software used to interpret novel variations Help
N/A

Laboratory's policy on reporting novel variations Help
N/A
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Citations to support internal test validation method, Citations for Analytical validity, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.