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Test ID BAIPD Bile Acids for Peroxisomal Disorders, Serum

Useful For

Biomarker for peroxisomal biogenesis disorders such as Zellweger syndrome and single enzyme defects of bile acid synthesis including D-bifunctional protein deficiency and alpha methyl CoA racemaces

 

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

Highlights

This is a serum test for the measurement C27 bile acids, which are a diagnostic marker for peroxisomal biogenesis disorders and single enzyme defects of bile acid synthesis including D-bifunctional protein deficiency and alpha methyl CoA racemase deficiency.

 

This test can also be used for monitoring of treatment efficacy.

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 be fasting for 12 to 14 hours.

Collection Container/Tube:

Preferred: Red top

Acceptable: Serum gel

Submission Container/Tube: Plastic vial

Specimen Volume: 0.5 mL


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

Trihydroxycholestanoic acid ≤1.30

Total cholic acid ≤5.00

Total chenodeoxycholic acid ≤6.00

Total ursodeoxycholic acid ≤2.00

Total bile acids ≤19.00

Day(s) Performed

Monday through Friday

Report Available

2 to 5 days

Performing 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. This test 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

NY State Approved

Yes

Testing Algorithm

See Ordering Guide: Bile Acid-Associated Tests in Special Instructions.

 

See Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy in Special Instructions.

 

For more information, see Newborn Screening Act Sheet X-linked Adrenoleukodystrophy: Increased Very Long Chain Fatty Acids in Special Instructions.