Bile Acids for Peroxisomal Disorders, Serum
Use
This test serves as a biomarker for peroxisomal biogenesis disorders, such as Zellweger spectrum disorder, as well as for single enzyme defects of bile acid synthesis, including D-bifunctional protein deficiency and alpha methyl CoA racemases. It is also useful for monitoring patients receiving bile acid therapy for liver disease due to these disorders or defects in bile acid synthesis.
Special Instructions
Patient preparation requires fasting for 12 to 14 hours. The test includes measurements of C27 bile acids, which are markers for peroxisomal disorders. Ensure samples are properly centrifuged and aliquoted into plastic vials for submission.
Limitations
Elevated serum bile acids post meal or due to cholic acid or other bile acid therapies might lead to diagnostic confusion. The assay's sensitivity to these conditions should be considered when interpreting results. Interferences from improper specimen collection or handling can affect the accuracy of the results.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 43130-4
- 53479-2
- 38188-9
- 30518-5
- 30519-3
- 55159-8
- 14628-2
Result Turnaround Time
3-5 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
0.5 mL
Minimum Volume
0.3 mL
Container
Serum gel or red top tube; submission in plastic vial
Collection Instructions
Centrifuge and aliquot serum into a plastic vial.
Patient Preparation
Fasting: 12 to 14 hours, required
Causes for Rejection
Gross hemolysis is acceptable; ensure proper handling and submission.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 90 days |
| Refrigerated | 90 days |
| Frozen | 90 days |