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HelpOrder 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 |
Reject Due To
| Gross hemolysis | OK |
| Gross lipemia | OK |
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
Method Description
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mobile phases to separate free bile acids, their respective tauro- and glyco-conjugates, and 2 bile acid precursors.(Unpublished Mayo method)
Day(s) Performed
Monday through Friday
Performing Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
82542
Special Instructions
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.