Test Catalog

Test Id : BAIPD

Bile Acids for Peroxisomal Disorders, Serum

Useful For
Suggests clinical disorders or settings where the test may be helpful

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.

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Bile Acids for Peroxisomal D/O, S

Aliases
Lists additional common names for a test, as an aid in searching

Peroxisomal Disorder

Peroxisomal Biogenesis Disorder

D-bifunctional protein deficiency

Alpha methyl-CoA racemase deficiency

Bile acids

C27 bile acids

Dihydroxycholestanoic acid

Trihydroxycholestanoic acid

Total Cholic acid

Total Chenodeoxycholic acid

Total Ursodeoxycholic acid

Total bile acids

Zellweger Syndrome

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Specimen Type
Describes the specimen type validated for testing

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
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

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

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

0.3 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Gross hemolysis OK
Gross lipemia OK

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Serum Refrigerated (preferred) 90 days
Ambient 90 days
Frozen 90 days

Useful For
Suggests clinical disorders or settings where the test may be helpful

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

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Bile acids are formed in the liver from cholesterol, conjugated primarily to glycine and taurine, stored and concentrated in the gallbladder, and secreted into the intestine after the ingestion of a meal. In the intestinal lumen, the bile acids serve to emulsify ingested fats and thereby promote digestion. During the absorptive phase of digestion, approximately 90% of the bile acids are reabsorbed.

 

The efficiency of the hepatic clearance of bile acids from portal blood maintains serum concentrations at low levels in normal persons. An elevated fasting level, due to impaired hepatic clearance, is a sensitive indicator of liver disease. Following meals, serum bile acid levels have been shown to increase only slightly in normal persons, but markedly in patients with various liver diseases, including cirrhosis, hepatitis, cholestasis, portal-vein thrombosis, Budd-Chiari syndrome, cholangitis, Wilson disease, and hemochromatosis. No increase in bile acids will be noted in patients with intestinal malabsorption. Metabolic hepatic disorders involving organic anions (eg, Gilbert disease, Crigler-Najjar syndrome, and Dubin-Johnson syndrome) do not cause abnormal serum bile acid concentrations.

 

This bile acid test for peroxisomal disorders measures concentrations of C27 bile acids, which are diagnostic markers for peroxisomal biogenesis disorders such as Zellweger syndrome and single enzyme defects of bile acid synthesis such as D-bifunctional protein deficiency and alpha methyl-CoA racemase deficiency. Elevated levels of C27 bile acids may enable diagnosis of peroxisomal biogenesis disorders and bile acid synthesis defects in children with liver cholestasis. Treatment for peroxisomal biogenesis disorders and bile acid synthesis defects with cholic acid is available. Measurement of C27 bile acids before and during treatment with bile acid therapy such as cholic acid can assist with monitoring of treatment efficacy.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Dihydroxycholestanoic acid < or =0.10

Trihydroxycholestanoic acid < or =1.30

Total cholic acid < or =5.00

Total chenodeoxycholic acid < or =6.00

Total ursodeoxycholic acid < or =2.00

Total bile acids < or =19.00

Interpretation
Provides information to assist in interpretation of the test results

Increases in serum C27 bile acids are seen in patients with peroxisomal biogenesis disorders such as Zellweger syndrome or single enzyme defects of bile acid synthesis such as 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.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Bile acid concentrations in serum may be elevated postmeal and due to bile acid therapy, such as cholic acid, deoxycholic acid, and ursodeoxycholic acid.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

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 Jan;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 May;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 Jan 15;24(2):361-370

4. Heubi JE, Setchell KDR, Bove KE: Inborn errors of bile acid metabolism. Clin Liver Dis. 2018 Nov;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 Aug;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

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

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)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Friday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

2 to 5 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

1 Month

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

82542

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports