Stable Isotope Dilution Gas Chromatography / Mass Spectrometry (GC/MS)
Investigation of adrenoleukodystrophy, adrenomyeloneuropathy (AMN), and Zellweger's syndrome, diagnosis of Refsum's disease, or to aid in assessment of peroxisomal function.
Age specific reference ranges provided with report.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Liver diseases, ketonemia, and starvation may compound interpretation of metabolite patterns in young patients.
4 - 8 days
- Fatty Acids, Very Long Chain
- Long Chain Fatty Acids
- Peroxisomal Panel
- Phytanatic Acid
- Phytanic Acid
- Pristanic Acid
- Very Long Chain Fatty Acids
- PEROXISOMAL PANEL, SERUM
- C24:0/C22:0 RATIO
- C26:0/C22:0 RATIO
- PRISTANIC/PHYTANIC ACID RATIO
Collect specimen in red top or SST tube from a fasting patient (12 - 14 hour fast). Centrifuge within 45 minutes of collection, aliquot serum into a plastic tube and freeze. Patient must not consume alcohol for 24 hours before collection of specimen.
Fasting specimen. Must arrive in lab or aliquot and freeze within 45 minutes.
Test sent to Mayo Medical Laboratories.