Initial test to screen for disorders of peroxisomal biogenesis and/or function, including X-linked adrenoleukodystrophy and Zellweger syndrome.
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Adults: Fasting specimen preferred.
Infants and children: Draw specimen prior to feeding or 2-3 hours after a meal.
Green (sodium or lithium heparin) or lavender (EDTA).
Separate plasma from cells. Transfer 0.5 mL plasma to an ARUP Standard Transport Tube and freeze immediately. (Min: 0.2 mL)
CRITICAL FROZEN. Separate specimens must be submitted when multiple tests are ordered.
Room temperature specimens greater than 24 hours. Refrigerated specimens greater than 48 hours. Specimens exposed to more than one freeze/thaw cycle.
Clinical information is needed for appropriate interpretation. Additional required information includes age, gender, diet (e.g.TPN therapy), drug therapy, and family history. Biochemical Genetics Patient History Form is available on the ARUP Web site at https://www.aruplab.com/patienthistory or by contacting ARUP Client Services.
After separation from cells: Ambient: 24 hours; Refrigerated: 72 hours; Frozen: 1 month
||1 year to 2 years
||3 years to 6 years
||7 years and older
|No||Pristanic Acid||Less than 0.31 µmol/L||Less than 0.55 µmol/L||Less than 0.46 µmol/L||Less than 0.26 µmol/L|
|No||Phytanic Acid||0.03-2.13 µmol/L||0.23-5.03 µmol/L||0.33-2.53 µmol/L||0.25- 2.07 µmol/L|
|No||Ratio Pristanic Acid to Phytanic Acid||Less than 0.91||Less than 0.28||Less than 0.28||Less than 0.28|
|No||C22:0 Behenic Acid||28.94-93.50 µmol/L||28.94-93.50 µmol/L||28.94-93.50 µmol/L||28.94-93.50 µmol/L|
|No||C24:0 Tetracosanoic Acid||24.25-77.75 µmol/L||24.25-77.75 µmol/L||24.25-77.75 µmol/L||24.25-77.75 µmol/L|
|No||C26:0 Hexacosanoic Acid||0.17-0.73 µmol/L||0.17-0.73 µmol/L||0.17-0.73 µmol/L||0.17-0.73 µmol/L|
|No||Ratio C24:0 to C22:0||0.64-1.02||0.64-1.02||0.64-1.02||0.64-1.02|
|No||Ratio C26:0 to C22:0||0.003-0.015||0.003-0.015||0.003-0.015||0.003-0.015|
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|2004251||Fatty Acids Profile Interpretation||49263-7|
|2004256||C22:0 Behenic Acid||30194-5|
|2004257||C24:0 Tetracosanoic Acid||30195-2|
|2004259||C26:0 Hexacosanoic Acid||30197-8|
|2004260||Ratio Pristanic to Phytanic||30550-8|
|2004261||Ratio C24:0 to C22:0||30196-0|
|2004262||Ratio C26:0 to C22:0||30198-6|
- VLCFA and BCFA