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Test 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, S

Specimen Type

Serum


Ordering 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 fast for 12 to 14 hours.

Supplies: Sarstedt Aliquot Tube, 5 mL (T914)

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
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

Day(s) Performed

Monday through Friday

Report Available

3 to 5 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542