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HelpTest Code BAIPD Bile Acids for Peroxisomal Disorders, Serum
Useful For
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 bile acid synthesis
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Reporting Name
Bile Acids for Peroxisomal D/O, SSpecimen Type
SerumOrdering Guidance
For assessment of general liver dysfunction in adults or diagnosis or monitoring of intrahepatic cholestasis of pregnancy, order BAFS / Bile Acids, Fractionated and Total, Serum.
Specimen Required
Patient Preparation: Patient must be fasting for 12 to 14 hours.
Collection Container/Tube:
Preferred: Serum gel
Acceptable: Red top
Submission Container/Tube: Plastic vial
Specimen Volume: 0.5 mL
Collection Instructions: Centrifuge and aliquot serum into a plastic vial.
Specimen Minimum Volume
0.3 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Serum | Refrigerated (preferred) | 90 days | |
| Ambient | 90 days | ||
| Frozen | 90 days |
Reference Values
Dihydroxycholestanoic acid: ≤0.10 nmol/mL
Trihydroxycholestanoic acid: ≤1.30 nmol/mL
Total cholic acid: ≤5.00 nmol/mL
Total chenodeoxycholic acid: ≤6.00 nmol/mL
Total ursodeoxycholic acid: ≤2.00 nmol/mL
Total bile acids: ≤19.00 nmol/mL
Interpretation
Increases in serum C27 bile acids are seen in patients with peroxisomal biogenesis disorders (eg, Zellweger spectrum disorder) or single enzyme defects of bile acid synthesis (eg, D-bifunctional protein deficiency and alpha methyl CoA racemaces). Total bile acids are metabolized in the liver and can serve as a marker for normal liver function. The values of 2 bile acid precursors, dihydroxycholestanoic acid and trihydroxycholestanoic acid, will be reported, along with total cholic acid, total chenodeoxycholic acid, total ursodeoxycholic acid, and total bile acids. No interpretive report will be provided.
Clinical Reference
1. Johnson DW, ten Brink HJ, Schuit RC, Jakobs C. Rapid and quantitative analysis of unconjugated C(27) bile acids in plasma and blood samples by tandem mass spectrometry. J Lipid Res. 2001;42(1):9-16
2. Bootsma AH, Overmars H, van Rooij A, et al. Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: application for selective screening of peroxisomal disorders. J Inherit Metab Dis. 1999;22(3):307-310
3. Ferdinandusse S, Jimenez-Sanchez G, Koster J, et al. A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. Hum Mol Genet. 2015;24(2):361-370
4. 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
5. 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):456-468
6. 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
7. 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
8. Society for Maternal-Fetal Medicine (SMFM). Lee RH, Mara Greenberg, Metz TD, Pettker CM. Society for Maternal-Fetal Medicine Consult Series #53: Intrahepatic cholestasis of pregnancy: replaces consult #13, April 2011. Am J Obstet Gynecol. 2021;224(2):B2-B9. doi:10.1016/j.ajog.2020.11.002
Day(s) Performed
Monday through Friday
Report Available
3 to 5 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
82542
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| BAIPD | Bile Acids for Peroxisomal D/O, S | 43130-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 41446 | Dihydroxycholestanoic Acid | 53479-2 |
| 41447 | Trihydroxycholestanoic Acid | 38188-9 |
| 41448 | Total Cholic Acid | 30518-5 |
| 41449 | Total Chenodeoxycholic Acid | 30519-3 |
| 41450 | Total Ursodeoxycholic Acid | 55159-8 |
| 41451 | Total Bile Acids | 14628-2 |
Special Instructions
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.