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Bile Acids for Peroxisomal D/O, 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 GTR000613142.1
INHERITED DISEASEMETABOLIC DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2024-01-29
View version history
Last annual review date for the lab: 2023-05-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Monitoring
Conditions (2): Help
Zellweger spectrum disorders; Inborn disorder of bile acid synthesis
Analytes (1): Help
bile acids
Methods (1): Help
Biochemical Genetics - Analyte: Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Target population: Help
Biomarker for peroxisomal biogenesis disorders, such as Zellweger spectrum disorder …
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
BAIPD
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
BAIPD
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/41445#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: 2
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
Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Monitoring
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: application for selective screening of peroxisomal disorders. Bootsma AH, et al. J Inherit Metab Dis. 1999;22(3):307-10. doi:10.1023/a:1005543802724. PMID: 10384393.

Target population: Help
Biomarker for peroxisomal biogenesis disorders, such as Zellweger spectrum disorder and single enzyme defects of bile acid synthesis, including D-bifunctional protein deficiency and alpha methyl CoA racemases. Monitoring patients receiving bile acid therapy, such as cholic acid, for liver disease due to peroxisomal biogenesis disorders or single enzyme defects in … View more
View citations (4)
  • Sundaram SS, Bove KE, Lovell MA, Sokol RJ. Mechanisms of disease: Inborn errors of bile acid synthesis. Nat Clin Pract Gastroenterol Hepatol. 2008;5(8):456-68. doi:10.1038/ncpgasthep1179. Epub 2008 Jun 24. PMID: 18577977.
  • Heubi JE, Setchell KDR, Bove KE. Inborn Errors of Bile Acid Metabolism. Clin Liver Dis. 2018;22(4):671-687. doi:10.1016/j.cld.2018.06.006. Epub 2018 Aug 22. PMID: 30266156.
  • Fischler B, Eggersten G, Bjorkhem I. Genetic defects in synthesis and transport of bile acids. In: Sarafoglou K, Hoffmann GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. McGraw-Hill Medical Division; 2017:447-460
  • Wanders RJA, Rizzo WB. Inborn errors of peroxisome biogenesis and function. In: Sarafoglou K, Hoffmann GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. 2nd ed. McGraw-Hill Medical Division; 2017:427-446
Recommended fields not provided:
Clinical validity, What is the protocol for interpreting a variation as a VUS?, 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?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Bile acid concentrations in serum are measured by liquid chromatography tandem mass spectrometry stable isotope dilution analysis. Serum is mixed with isotopically labeled internal standards of selected bile acids and then subjected to protein precipitation. Sample preparation is semiautomated using a liquid handler. Reverse-phase liquid chromatography is performed using mobile … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Recovery was used to assess accuracy; mean recovery was 82%. Intra assay precision was performed at 2 levels, CVs ranged from 1.6% to 4.2% (N=10 each). Inter assay precision was performed at 2 levels, CVs ranged from 1.9% to 13.7% (N=3 each). The reportable range is analyte dependent and ranges … View more
Assay limitations: Help
Bile acid concentrations in serum may be elevated post meal or due to bile acid therapy, such as cholic acid, deoxycholic acid, and ursodeoxycholic acid.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

Description of PT method: Help
Inter-laboratory alternative assessment with external laboratories

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.
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Citations to support internal test validation method, Citations for Analytical validity, PT Provider, 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.