Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
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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
Bile acids for peroxisomal disorders is a serum test measuring 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.
Bile acids for peroxisomal disorders can also be used for monitoring of treatment efficacy.
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.
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)